Rare Disease Discussions: Recent Episodes
CheckRare
News and clinical perspective including CME programs focused on rare diseases. CheckRare focuses on rare and neglected diseases.
This program, led by Christiaan Scott, MD, Professor of Pediatric Rheumatology at the University of Ottawa and Raphaella Stander, MBCHB, Pediatrician at Atlantic Children’s Practice, focused on three case studies to provide physicians with education on best practices to: 1) suspect and diagnose FOP, 2) monitor and manage younger children with FOP, and 3) monitor and manage older children and adults with FOP.
This accredited CME program provides healthcare professional with timely and practical education on fibrodysplasia ossificans progressiva (FOP). It is supported by an educational grant from Ipsen Biopharmaceuticals.
To obtain CME credit, visit https://checkrare.com/learning/p-case-studies-in-diagnosing-and-managing-fop/
Target Audience
This activity has been designed to meet the educational needs of physicians specializing in pediatrics, rheumatology, genetics, family medicine, and orthopedics. Other members of the care team may also participate.
Learning Objectives
After participating in the activity, learners should be better able to:
* Apply best practices for suspecting and diagnosing FOP.
* List best practices for managing young children with FOP.
* Identify best practices to manage older children and adults with FOP.
Christiaan Scott, Professor of Medicine, University of Ottawa
Raphaella Stander, MBCHB, Pediatrician, Atlantic Children’s Practice
Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:
Faculty Educator/Planner
Dr. Scott discloses the following relevant financial relationships with ineligible companies:
Grant/Research Support: Regeneron, Incyte, Janssen, Roche; Speaker’s Bureau: Ipsen, Regeneron, Springer, Jannsen
*Relationships have ended
Dr. Stander has no relevant financial relationships with ineligible companies.
Other Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will review off-label or investigational information.
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 1.0 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Other HCPs
Other members of the care team will receive a certificate of participation.
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you within 30 days.
Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/
Contact
For any questions, please contact: CEServices@academycme.org
Copyright
© 2025. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).
This accredited CME program highlights the latest clinical research about immune thrombocytopenia (ITP), a rare thrombotic disorder.
Led by Shruti Chaturvedi, MD, this program provides a summary of clinically relevant data presented at the International Society of Thrombosis and Haemostatis Congress (ISTH 2025) that can enhance the care of patients with ITP.
This program is supported by an educational grant from Sanofi.
To receive CME credit, go to https://checkrare.com/learning/p-isth2025-module2-immune-thrombocytopenia-clinical-research-highlights/
Target Audience
This activity has been designed to meet the educational needs of physicians specializing in ITP. Other members of the care team may also participate.
Learning Objectives
After participating in the activity, learners should be better able to:
* Describe the latest research being presented to better manage individuals with ITP and its clinical relevance.
Faculty
Shruti Chaturvedi, MD
Assistant Professor of Medicine,
Johns Hopkins
Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:
Faculty Educator/Planner
Dr. Chaturvedi discloses the following relevant financial relationships with ineligible companies:
Scientific Advisory Board/Consultant: Sanofi, Takeda, Sobi, argenx, Star Pharma, RallyBio, Novartis, Alexion
Grant/Research Support: Sanofi, Sobi, argenx
Other Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will review off-label or investigational information.
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.5 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Other HCPs
Other members of the care team will receive a certificate of participation.
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you within 30 days.
Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/
Contact
For any questions, please contact: CEServices@academycme.org
Copyright
© 2025. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).
The accredited CME program highlights the latest clinical research about iTTP, a rare thrombotic disorder.
Led by Shruti Chaturvedi, MD, this activity provides a summary of clinically relevant data presented at the International Society of Thrombosis and Haemostatis Congress (ISTH 2025) that can enhance the care of patients with iTTP.
This program is supported by an educational grant from Sanofi.
To receive CME credit, go to https://checkrare.com/learning/p-isth2025-module3-immune-thrombotic-thrombocytopenic-purpura-ittp-clinical-research-highlights/
Target Audience
This activity has been designed to meet the educational needs of physicians specializing in iTTP. Other members of the care team may also participate.
Learning Objectives
After participating in the activity, learners should be better able to:
* Describe the latest research being presented to better manage individuals with iTTP and its clinical relevance.
Shruti Chaturvedi, MD
Assistant Professor of Medicine
Johns Hopkins
Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:
Faculty Educator/Planner
Dr. Chaturvedi discloses the following relevant financial relationships with ineligible companies:
Scientific Advisory Board/Consultant: Sanofi, Takeda, Sobi, argenx, Star Pharma, RallyBio, Novartis, Alexion
Grant/Research Support: Sanofi, Sobi, argenx
Other Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will review off-label or investigational information.
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.75 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Other HCPs
Other members of the care team will receive a certificate of participation.
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you within 30 days.
Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/
Contact
For any questions, please contact: CEServices@academycme.org
Copyright
© 2025. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).
The accredited CME program highlights the latest clinical research about hemophilia, a rare, genetic bleeding disorder.
Led by Dr. Steven Pipe, MD, this activity provides a summary of clinically relevant data presented at the International Society of Thrombosis and Haemostatis Congress (ISTH 2025) that can enhance the care of patients with hemophilia.
This program is supported by an educational grant from Sanofi.
To receive CME credit, visit https://checkrare.com/learning/p-isth2025-module1-hemophilia-clinical-research-highlights/
Target Audience
This activity has been designed to meet the educational needs of physicians specializing in hemophilia. Other members of the care team may also participate.
Learning Objectives
* After participating in the activity, learners should be better able to:
* Describe the latest research being presented to better manage individuals with hemophilia and its clinical relevance.
Steven Pipe, MD
Professor of Medicine,
University of Michigan
Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:
Faculty Educator/Planner
Dr. Pipe discloses the following relevant financial relationships with ineligible companies:
* Consultant: Bayer, BioMarin, CSL Behring, Hema Biologics, Inovio, LFB, Metagenomi, Novo Nordisk, Pfizer, Poseida Therapeutics, Roche/Genentech, Sanofi, Takeda, Spark Therapeutics
* Scientific Advisory Committee: GeneVentiv, Equilibra Bioscience
* Grant/Research Support: Siemens, YewSaving
Other Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will review off-label or investigational information.
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.50 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Other HCPs
Other members of the care team will receive a certificate of participation.
Contact
For any questions, please contact: CEServices@academycme.org
Copyright
© 2025. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).
This program is supported by an educational grant from UCB, Inc.
This accredited CME program highlights the latest clinical research about myasthenia gravis, a rare, autoimmune disease that targets the neuromuscular junction. This program, led by Dr. James Howard Jr, provides a summary of clinically relevant data presented at the American Academy of Neurology Annual Meeting (AAN 2025) held in San Diego, CA that can enhance the care of patients with myasthenia gravis.
To obtain CME credit for this program, visit https://checkrare.com/learning/p-myasthenia-gravis-clinical-research-highlights-aan-2025/
Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology, ophthalmology, rheumatology, and family practice. Other members of the care team may also participate.
Learning Objectives
After participating in the activity, learners should be better able to:
Describe the latest research being presented to better manage individuals with myasthenia gravis and its clinical relevance.
FACULTY
James F. Howard Jr, MD, FAAN
Professor of Neurology
University of North Carolina at Chapel Hill
Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:
Faculty Educator/Planner
Dr. Howard discloses the following relevant financial relationships with ineligible companies:
Advisory Board/Consultant: Alexion AstraZeneca Rare Disease, Amgen, argenx, Biohaven Ltd, Cartesian Therapeutics, CoreEvitas, Curie.bio, Hansa Biopharma, H. Lundbeck A/S, Merck EMD Serono, NMD Pharma, Novartis Pharma, Regeneron Pharmaceuticals, Sanofi US, Seismic Therapeutics, TG Therapeutics, Toleranzia AB, and UCB Pharma
Grant/Research Support: Ad Scientiam, Alexion AstraZeneca Rare Disease, argenx, Cartesian Therapeutics, NMD Pharma, and UCB Pharma
Other Relationships: non-financial support (eg travel) Alexion AstraZeneca Rare Disease, argenx, Biohaven Ltd, Cartesian Therapeutics, Toleranzia AB, and UCB Pharma.
Other Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will review off-label or investigational information.
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
CREDIT
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.75 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Other HCPs
Other members of the care team will receive a certificate of participation.
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you within 30 days.
Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/
Contact
For any questions, please contact: CEServices@academycme.org
Copyright
© 2025. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).
Warner Carr, MD, Allergist and Immunologist at the Allergy and Asthma Associates of Southern California, discusses the mastocytosis control test and its implications for physicians.
Ozlem Goker-Alpan, MD, Founder and President, Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and Ravi Kamath, MD, PhD, of Fairfax Radiological Consultants & Inova Health System and University of Virginia School of Medicine Fairfax, Virginia, USA discuss best practices to identify and treat bone problems associated with lysosomal disorders.
This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), CheckRare CE, and AffinityCE. This activity provides continuing education credit for physicians, physician assistants, nurses, nurse practitioners, and genetic counselors. A statement of participation is available to other attendees.
This educational program is supported by an educational grant from Takeda and Ultragenyx.
To obtain credit, visit https://checkrare.com/learning/p-skeletal-involvement-in-lysosomal-disorders/quizzes/evaluation-skeletal-involvement-in-lysosomal-disorders/
Faculty
Ozlem Goker-Alpan, MD, Founder and President, Lysosomal & Rare Disorders Research & Treatment Center (LDRTC), Fairfax, VA
Ravi Kamath, MD, PhD,Fairfax Radiological Consultants & Inova Health System and the University of Virginia School of Medicine, Fairfax, Virginia
Disclosures
AffinityCE staff, LDRTC staff, CheckRare staff, planners, and reviewers, have no relevant financial interests to disclose. All faculty disclosures are listed below and are included in the beginning of each presentation.
Dr. Goker-Alpan is on the Advisory Board/Consultant for Chiesi, Takeda, Sanofi, Prevail/Lilly, Sparks Therapeutics, Uniqure, Exegenesis, Astellas, Freeline, Team Sanfilippo. She receives grants/research support from Chiesi, Sanofi, Takeda, Prevail/Lilly, Spark Therapeutics, Amicus, Freeline, Sangamo, Cyclo, Odorsia, DMT, Homology, Protaliz. She is on the speaker bureau for Sanofi, Takeda, Amicus, Chiesi
Dr. Kamath is on the Advisory Board for Spur Therapeutics and Intrinsic Therapeutics. He is also a consultant for Sanofi, Shire and Takeda.
Mitigation of Relevant Financial Relationships
AffinityCE adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CME activity, including faculty, planners, reviewers, or others, are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity. A non-conflicted reviewer resolved conflicts of interest for presenting faculty with relevant financial interests through peer review of content.
Learning Objectives
* Describe the role of the orthopedic surgeon in the team approach to care
* Describe best practices to monitor bone abnormalities in persons with LDs
* Describe best practices to treat bone abnormalities in persons with LDs
* Describe research trends in bone abnormalities in persons with LDs
Physicians
This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited by the ACCME to provide continuing medical education for physicians.
AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Physician Assistants
This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited by the ACCME to provide continuing medical education for physicians.
AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physician Assistants should claim only the credit commensurate with the extent of their participation in the activity.
Nurses
Continuing Nursing Education is provided for this program through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited as a provider of nursing continuing professional development by the American Nurses Credentialing Center’s Commission on Accreditation (ANCC). This activity provides a maximum of 1 hours of continuing nursing education credit.
Nurse Practitioners
This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited by the ACCME to provide continuing medical education for physicians.
AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Nurse practitioners should claim only the credit commensurate with the extent of their participation in the activity.
Genetic Counselors
Category 2 CEU
This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited by the ACCME to provide continuing medical education for physicians.
AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credit™. Genetic counselors should claim only the credit commensurate with the extent of their participation in the activity.
Other Professionals
All other health care professionals completing this continuing education activity will be issued a statement of participation indicating the number of hours of continuing education credit. This may be used for professional education CE credit. Please consult your accrediting organization or licensing board for their acceptance of this CE activity.
Commercial Support
Support for this educational activity was provided by Takeda and Ultragenyx.
Participation Costs
There is no cost to participate in this activity.
CME Inquiries
For all CME policy-related inquiries, please contact us at ce@affinityced.com.
Send customer support requests to cds_support+ldrtc@affinityced.com.
This program is supported by educational grants from Amicus Therapeutics, Inc. and Chiesi USA Inc.
Fabry disease is an inherited lysosomal storage disease caused by mutations in the GLA gene, disrupting the function of the enzyme, α-galactosidase. This results in the accumulation of globotriaosylceramide (GL-3) and its deacylated form, globotriaosylsphingosine (lyso-GL-3), leading to progressive disruption of multiple organ systems.
There are currently three treatment options available for Fabry disease, including two enzyme replacement therapies, agalsidase beta and pegunigalsidase alfa, and a chaperone therapy, migalastat. There are also other treatments in development (e.g., gene therapy, other enzyme replacement therapies) and some that are available in other countries (e.g., agalsidase alfa).
Due to the small patient population and variability in Fabry disease severity, it is challenging to develop properly powered, placebo-controlled clinical trials. As such, data shared at conferences like WORLDSymposium 2025 are crucial for guiding best practices in this disease area. This program, led by Dr. Eric Wallace, provides a summary of clinically relevant data presented at WORLDSymposium 2025 that can enhance the care of patients with Fabry disease.
Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology, nephrology, cardiology, gastroenterology, ophthalmology, and dermatology. Other members of the care team may also participate.
Learning Objectives
After participating in the activity, learners should be better able to: Describe the latest research being presented to better manage individuals with Fabry disease and its clinical relevance.
Eric Wallace, MD
Professor of Medicine
Department of Nephrology
University of Alabama Medical School
Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:
Faculty Educator/Planner
Dr. Wallace discloses the following relevant financial relationships with ineligible companies:
Advisory Board Consultant: Sanofi-Genzyme, Chiesi, Kyowa Kirin, Sangamo, Natera
Grant/Research Support: Sanofi-Genzyme, Chiesi, Uniqure, Idorsia, Amicus
Other Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will review off-label or investigational information.
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.50 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Other HCPs
Other members of the care team will receive a certificate of participation.
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you within 30 days.
Hardware/Software Requirements
Windows Requirements: • Operating system: Windows XP Service Pack 2 or later • Browser: Internet Explorer 7 or later, Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection
Macintosh Requirements: • Operating system: Mac OS X v10.3 or later • Browser: Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection
Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/
Contact
For any questions, please contact: CEServices@academycme.org
Copyright
© 2025. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder characterized by abnormal bone development. Most babies with FOP appear normal and healthy at birth with one exception—the appearance of deformed big toes. Unfortunately, this common deformity can be attributed to other causes. This can result in a delay of years before a person is diagnosed with FOP properly. This educational webinar, hosted by Ellen Elias, MD, Professor, Pediatrics and Genetics, University of Colorado School of Medicine, and Christiaan Scott, MD, Professor of Medicine at the University of Ottawa, examines best practices to suspect and diagnose this ultra-rare condition.
This educational program is made possible by an unrestricted grant from the International Fibrodysplasia ossificans progressiva Association (IFOPA).
To see the video, please visit https://checkrare.com/suspecting-and-diagnosing-fibrodysplasia-ossificans-progressiva-fop/
This educational program, hosted by Patrick McKiernan, MD, Pediatric Hepatologist at Birmingham Children's Hospital NHS Foundation Trust and Nadia Ovchinsky, MD, Professor of Medicine at NYU Grossman School of Medicine discuss the recently published guidance on best practices to diagnose, treat, and monitor patients with PFIC. It also explains why the new guidance recommends the early use of IBAT inhibitors in patients suspected of having progressive familial intrahepatic cholestasis (PFIC).
PFIC encompasses a spectrum of autosomal recessive disorders characterized by impaired bile flow (cholestasis) due to defects in biliary epithelial transporters. These rare genetic conditions typically manifest in infancy or early childhood, leading to severe liver dysfunction and potentially life-threatening complications if left untreated. Common early symptoms observed in children with PFIC are jaundice, pruritus, elevated serum bile acid (SBA) values, malabsorption, and failure to thrive. PFIC can be a debilitating condition that significantly impacts the quality of life and can result in end-stage liver disease. As such, early detection and effective intervention are imperative for the prevention of disease progression.
Unfortunately, there are no relevant guidelines based on newly published research to help healthcare providers manage patients with PFIC. However, a recent opinion paper by leading experts in the management of PFIC provides evidence-based guidance on this subject and was recently published in JHEP Reports.
This educational program is made possible by an unrestricted grant from Ipsen.
This CME program provides information on best practices to manage children with lysosomal disorders who have been identified by newborn screening. WIth the wide range of symptoms and severities that present for these rare conditions, it is not always certain when the best time to start treatment is in these patients.
Continuing Education Information
This continuing education activity is provided by AffinityCE and the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC). This activity provides continuing education credit for physicians. A statement of participation is available to other attendees.
To obtain credit, visit https://checkrare.com/learning/p-transforming-clinical-outcomes-with-early-treatment-of-lysosomal-disorders/
Faculty and Disclosures
AffinityCE staff, LDRTC staff, planners, and reviewers, have no relevant financial relationships with ineligible companies to disclose. Faculty disclosures, listed below, will also be disclosed at the beginning of the Program.
Ozlem Goker-Alpan MD
Founder and CMO, Lysosomal & Rare Disorders Research & Treatment Centers
Dr. Goker-Alpan is on the Advisory Board/Consultant for Chiesi, Takeda, Sanofi, Prevail/Lilly, Sparks Therapeutics, Uniqure, Exegenesis, Astellas, Freeline, Team Sanfilippo. She receives grants/research support from Chiesi, Sanofi, Takeda, Prevail/Lilly, Spark Therapeutics, Amicus, Freeline, Sangamo, Cyclo, Odorsia, DMT, Homology, Protaliz. She is on the speaker bureau for Sanofi, Takeda, Amicus, Chiesi
David F. Kronn MD
Associate Professor of Pathology and Pediatrics
New York Medical College
Dr. Kronn is on the Advisory Board for Sanofi. He is also on the speaker bureau for Sanofi. He receives research funding from Sanofi.
Uma Ramaswami FRCPCH, MD
Royal Free London Hospitals & Genetics and Genomic Medicine, University College London
Dr. Ramaswami is on the Advisory Board for Amicus, Chiesi, Sanofi and Takeda. She receives research grants from Chiesi and Intabio.
Liz Jalazo MD
Assistant Professor of Pediatrics and Genetics
University of North Carolina at Chapel Hill
Dr. Jalazo is on the Advisory Board for Sanofi and Ionis.
Lindsay Torrice MSN, CPNP-PC MD
Assistant Professor of Pediatrics
University of North Carolina at Chapel Hill
Ms. Torrice has no financial relationships to disclose.
Mitigation of Relevant Financial Relationships
AffinityCE adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CME activity, including faculty, planners, reviewers, or others, are required to disclose all relevant financial relationships with ineligible companies. All relevant financial relationships for faculty were mitigated by the peer review of content by non-conflicted reviewers before the commencement of the activity.
Learning Objectives
At the end of this activity, participants should be able to:
• Cite the importance of early diagnosis and treatment of lysosomal storage disorders
• List the guidelines for the early treatment of LDs and enhanced integration of newborn screening programs
• Identify key research gaps and priorities and strengthen collaboration among researchers and healthcare professionals
• List the educational resources and support programs for families
Physicians
This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited by the ACCME to provide continuing medical education for physicians.
AffinityCE designates this enduring activity for a maximum of 1.0 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Other Professionals
All other healthcare professionals completing this continuing education activity will be issued a statement of participation indicating the number of hours of continuing education credit. This may be used for professional education CE credit. Please consult your accrediting organization or licensing board for their acceptance of this CE activity.
Commercial Support
This activity was supported by educational grants from Takeda, Sanofi, and Chiesi.
Participation Costs
There is no cost to participate in this activity.
CME Inquiries
For all CME policy-related inquiries, please contact us at ce@affinityced.com.
Send customer support requests to cds_support+ldrtc@affinityced.com.
This CME program, hosted by Jean Elwing, MD, of the University of Cincinnati College of Medicine provides an overview of the latest clinical research about PAH presented at CHEST 2024.
PAH is a rare, progressive disorder characterized by high blood pressure in the pulmonary arteries. Symptoms of PAH include shortness of breath (dyspnea) especially during exercise, chest pain, and fainting episodes. The progressive nature of this disease means that an individual may experience only mild symptoms at first, but will eventually require treatment and medical care to maintain a reasonable quality of life. There are numerous treatment options and options in development for persons with PAH and it is imperative clinicians who manage these patients stay up-to-date on the latest clinical research.
Target Audience
This activity has been designed to meet the educational needs of physicians specializing in pulmonology, cardiology, rheumatology, and radiology. Other members of the care team may also participate.
Learning Objectives
Describe the latest research being presented to better manage people with PAH and its clinical relevance.
CME Credit
To obtain credit, visit https://checkrare.com/learning/p-pah-clinical-research-highlights-chest-2024/
Faculty/ Disclosure
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:
Dr. Elwing discloses the following relevant financial relationships with ineligible companies:
Advisory Board Consultant: United Therapeutics, Aerovate Therapeutics, Gossamer Bio, Liquidia, Merck, Janssen/Actelion/Johnson & Johnson, Lung LLC, Pulmovant
Grant/Research Support: United Therapeutics, Gossamer Bio, Bayer, Acceleron/Merck, Altavant Sciences, Aerovate Therapeutics, Pharmosa Biopharm/Liquidia, Actelion/Janssen/Johnson & Johnson, Lung LLC, Pulmovant
Speaking Honorarium: United Therapeutics
Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will review off-label or investigational information.
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically and draw conclusions only after careful consideration of all available scientific information.
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.50 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Other HCPs
Other members of the care team will receive a certificate of participation.
Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/
Contact
Please contact: CEServices@academycme.org for any comments or questions.;
Copyright © 2025. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).
Hereditary angioedema (HAE) is a rare condition often due to reduced levels C1-inhibitor, which is a protein involved in various physiological processes in plasma, most notably with the complement system. C1-inhibitor also binds and inhibits plasma kallikrein and factor XIa, thereby affecting bradykinin production. It is believed that the disruptions of these processes cause fluid to leak from the blood to connective tissue, leading to HAE attacks. Owing to its rarity, HAE is often poorly recognized, leading to misdiagnoses and significant diagnostic delays. Being aware of the early signs and symptoms of this condition can lead to faster diagnosis and the use of effective therapies.
This program is supported by independent medical education grants from Takeda.
To earn CME credit please visit https://checkrare.com/learning/p-consider-rare-suspecting-and-diagnosing-hereditary-angioedema/lessons/consider-rare-suspecting-and-diagnosing-hereditary-angioedema-module/
Target Audience
This activity has been designed to meet the educational needs of physicians specializing in primary care, pediatrics, emergency care, otolaryngology, gastroenterology, and dermatology .Other members of the care team may also participate.
Learning Objectives
After participating in the activity, learners should be better able to:
- Describe the early symptoms of HAE and its clinical relevance.
- Apply best practices to diagnose HAE more efficiently to reduce diagnostic delays.
Faculty
Jonathan A Bernstein, MD
Professor of Medicine
University of Cincinnati
Department of Internal Medicine
Division of Immunology, Allergy Section
Partner Advanced Allergy Services, LLC
Partner Bernstein Clinical Research Center
Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:
Dr. Bernstein discloses the following relevant financial relationships with ineligible companies:
Advisory Board Consultant: Takeda/Shire, CSL Behring, KalVista, Pharming, Biocryst, Ionis, Intellia, Pharvaris, Astria and Biomarin
Grant/Research Support: Takeda/Shire, CSL Behring, KalVista, Pharming, Biocryst, Ionis, Intellia, Pharvaris, Astria and Biomari
Speaker’s Bureau: Pharming
Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will review off-label or investigational information.
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.50 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Other HCPs
Other members of the care team will receive a certificate of participation.
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you within 30 days.
Contact
For any questions, please contact: CEServices@academycme.org
Copyright
© 2025. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).
This educational program is made possible by an unrestricted grant from Takeda Pharmaceuticals.
Hereditary angioedema (HAE) is a rare genetic disease that results in immunologic attacks that can be life-threatening. HAE is the result of reduced levels of C1-inhibitor, a protein involved in various physiological processes in plasma, most notably with the complement system. C1-inhibitor also binds and inhibits plasma kallikrein and factor XIa, thereby affecting bradykinin production. It is believed that the disruptions of these processes lead to fluid leaking from the blood to connective tissue which leads to HAE attacks. It is these HAE attacks that tend to put persons in the emergency department or unable to attend work or school.
Numerous therapies are now available for patients with HAE to both treat acute attacks and prevent attacks via prophylactic treatment.
With so many treatment options now available, is it disheartening to learn that not all patients with HAE are receiving equal care or access to care. Patients with HAE living in rural areas as patients from underrepresented racial or ethnic backgrounds are not provided the same level of care as patients, especially Caucasian patients, living in more affluent areas.
This panel discussion by three clinical research leaders in HAE, Drs. Aleena Banerji, Timothy Craig, and Marc Riedl, provide an overview of the discrepancies in care observed in certain patient populations, as well as a discussion on best practices to reduce those inequalities moving forward.
To view this program in video format, go to https://checkrare.com/improving-health-equity-in-hereditary-angioedema-hae-a-panel-discussion/
João Gonçalves
Faculty of Pharmacy
University of Lisbon
Lisbon, Portugal
Paolo Caliceti
Department of Pharmaceutical and Pharmacological Sciences
University of Padova
Padova, Italy
What Is PEGylation and Why Is It Important?
We will begin by examining the clinical uses of therapeutic proteins, and their applications in healthcare. Next, we will discuss the inherent limitations of therapeutic proteins, including challenges such as pharmacokinetic (PK) profiles, protein aggregation during storage, and potential immune responses. The session will then delve into the process of PEGylation, where polyethylene glycol (PEG) is conjugated to functional amino acid groups on the protein surface. This modification may enhance the properties of therapeutic proteins, offering advantages in stability, half-life, and immunogenicity.
Biopharmaceutical and Immunological Properties of PEGylated Proteins
We will explore the biopharmaceutical and immunological properties of PEGylated proteins, focusing on how their unique structure and composition impact their function. We will discuss how each PEGylated protein has distinct properties based on PEG architecture, molecular weight and degree of conjugation that cannot be generalized across different pegylated molecules, highlighting the variability in pharmacokinetic (PK) characteristics such as half-life, absorption, distribution, and elimination. These factors can significantly influence clinical outcomes, including dosing intervals and overall therapeutic effectiveness. We will also address the potential clinical advantages and limitations of PEGylation, with real-world examples to illustrate how these proteins are used in practice.
Immunogenicity Considerations of PEGylated Proteins
We will explore the immunogenicity of PEGylated proteins, examining both the potential benefits and risks associated with PEG modification. While PEGylation can trigger immune responses against PEG itself or the PEGylated protein, it can also help mask epitopes and reduce anti-drug antibodies formation. Drug- and patient-related factors that influence immunogenicity risk will also be covered, along with the prevalence and impact of pre-existing anti-drug antibodies (ADAs).We will discuss the potential clinical consequences of immune reactions to PEG or PEGylated proteins, and how the risk of such responses can vary depending on the unique properties of each PEGylated protein. The session will also address strategies to mitigate anti-PEG immunogenicity, as well as approaches for monitoring immunogenicity across different stages of drug development—from preclinical studies to post-marketing surveillance. Additionally, we will explore tools that may help predict therapeutic responses to PEGylated proteins, touching on potential areas for future research.
Discussion and Conclusion
By the end of the session, participants will gain a comprehensive understanding of:
* How PEGylation represents a major technological advancement in the development and optimization of therapeutic proteins.
* How PEGylation affects both the biopharmaceutical properties and clinical applications of therapeutic proteins
* Immunogenicity in the context of PEGylated proteins and the strategies used to manage and predict immune responses.
* The role of PEGylation in therapeutic outcomes and the future opportunities for innovation in this field.
This 30-minute CME-accredited program, hosted by John Kuruvilla, MD, discusses best practices for talking to patients with hematologic malignancies about possibly participating in clinical trials.
Jointly Provided by American Academy of CME and CheckRare CE.
Support for this accredited continuing education activity has been made possible through educational grant from Merck.
Estimated time to complete: 0.5 hours
Start date: November 30, 2024
End date: November 30, 2025
Activity Faculty
John Kuruvilla, MD
Hematologist / Clinical Investigator
Princess Margaret Cancer Centre
Professor of Medicine
University of Toronto
Target Audience
This activity has been designed to meet the educational needs of physicians specializing in hematology-oncology. Other healthcare providers, including NPs and PAs, may also participate.
Learning Objectives
After participating in the activity, learners should be better able to
- Describe the importance of clinical trials in furthering the science of hematologic malignancies treatment.
- Describe and utilize best practices for engaging patients in shared decision making regarding clinical trial participation.
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.5 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Other HCPs
Other members of the care team will receive a certificate of participation.
Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:
Faculty Educator/Planner
Dr. Kuruvilla discloses the following relevant financial relationships with ineligible companies:
Honoraria: AbbVie, Amgen, AstraZeneca, Bristol Myers Squibb, Beigene, Genmab, Gilead Sciences, GlaxoSmithKline, Incyte, Janssen, Karyopharm, Merck, Novartis, Pfizer, Roche, Seattle Genetics
Consultant: AbbVie, Bristol Myers Squibb, Gilead Sciences/Kite, Merck, Roche, Seattle Genetics
Grant/Research Support: AstraZeneca, Kite, Merck, Novartis, Roche
Data Safety Monitoring Board: Karyopharm
Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will not review off-label or investigational information.
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Method of Participation
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please go to https://checkrare.com/learning/p-hematologic-malignancies-and-clinical-trial-participation-a-shared-decision-making-approach/
Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/
Contact
For any questions, please contact: CEServices@academycme.org
Jointly Provided by American Academy of CME Inc and CheckRare CE Inc.
Support for this accredited continuing education activity has been made possible through an educational grant from argenx US Inc. and UCB.
Estimated time to complete: 0.50 hours
Start date: November 7, 2024
End date: November 6, 2025
This half-hour CME-accredited program, hosted by Richard J. Nowak, MD, MS, explains the role of neonatal fragment crystallizable receptor (FcRn) in myasthenia gravis (MG) and how treatments that target FcRn are being used to manage patients with MG.
To obtain credit, visit https://checkrare.com/learning/p-fcrn-and-myasthenia-gravis/
Activity Faculty
Richard J. Nowak, MD, MS
Director, Program in Clinical & Translational Neuromuscular Research (CTNR)
Director, Yale Myasthenia Gravis Clinic
Associate Professor of Neurology
Division of Neuromuscular Medicine
Department of Neurology
Yale School of Medicine
New Haven, CT
Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology and ophthalmology who may be involved in the diagnosis and care of individuals with MG. Other healthcare providers, including neurology NPs and PAs, may also participate.
Learning Objectives
After participating in the activity, learners should be better able to
Describe the role of FcRn in MG.
Describe the efficacy of the treatment options for MG that target FcRn.
Compare the safety of the treatment options for MG that target FcRn.
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.50 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Other HCPs
Other members of the care team will receive a certificate of participation.
Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:
Dr. Nowak discloses the following relevant financial relationships with ineligible companies:
Advisory Board/Consultant: Alexion (part of AstraZeneca), argenx, Amgen, Cour Pharmaceuticals, Immunovant, Janssen, UCB
Grant/Research Support: Alexion (part of AstraZeneca), argenx, Amgen, Cour Pharmaceuticals, Immunovant, Janssen, UCB
Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will review off-label or investigational information.
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Method of Participation
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you in within 30 days.
Hardware/Software Requirements
Windows Requirements: • Operating system: Windows XP Service Pack 2 or later • Browser: Internet Explorer 7 or later, Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection
Macintosh Requirements: • Operating system: Mac OS X v10.3 or later • Browser: Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection
Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/
Contact
For any questions, please contact: CEServices@academycme.org
Copyright
© 2024. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).
Jointly Provided by American Academy of CME Inc and CheckRare CE Inc.
Support for this accredited continuing education activity has been made possible through an educational grant from argenx US Inc.and UCB.
Estimated time to complete: 0.25 hours
Start date: November 7, 2024
End date: November 6, 2025
This quarter-hour CME-accredited program, hosted by Richard J. Nowak, MD, MS, explains the role of neonatal fragment crystallizable receptor (FcRn) in myasthenia gravis (MG).
To obtain CME credit, visit https://checkrare.com/learning/p-fcrn-and-myasthenia-gravis-pathophysiology/
Activity Faculty
Richard J. Nowak, MD, MS
Director, Program in Clinical & Translational Neuromuscular Research (CTNR)
Director, Yale Myasthenia Gravis Clinic
Associate Professor of Neurology
Division of Neuromuscular Medicine
Department of Neurology
Yale School of Medicine
New Haven, CT
Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology and ophthalmology who may be involved in the diagnosis and care of individuals with MG. Other healthcare providers, including neurology NPs and PAs, may also participate.
Learning Objectives
After participating in the activity, learners should be better able to
Describe the role of FcRn in MG.
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.25 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Other HCPs
Other members of the care team will receive a certificate of participation.
Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:
Faculty Educator
Dr. Nowak discloses the following relevant financial relationships with ineligible companies:
Advisory Board/Consultant: Alexion (part of AstraZeneca), argenx, Amgen, Cour Pharmaceuticals, Immunovant, Janssen, UCB
Grant/Research Support: Alexion (part of AstraZeneca), argenx, Amgen, Cour Pharmaceuticals, Immunovant, Janssen, UCB
Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will review off-label or investigational information.
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Method of Participation
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you in within 30 days.
Hardware/Software Requirements
Windows Requirements: • Operating system: Windows XP Service Pack 2 or later • Browser: Internet Explorer 7 or later, Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection.
Macintosh Requirements: • Operating system: Mac OS X v10.3 or later • Browser: Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection
Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/
Contact
For any questions, please contact: CEServices@academycme.org
Copyright
© 2024. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).
Jointly Provided by the American Academy of CME and CheckRare CE Inc.
Support for this accredited continuing education activity has been made possible through educational grant from argenx US Inc. and UCB.
Estimated time to complete: 0.25 hours
Start date: November 7, 2024
End date: November 6, 2025
This quarter-hour CME-accredited program, hosted by Richard J. Nowak, MD, MS, discusses the safety and efficacy of neonatal fragment crystallizable receptor (FcRn)-directed therapies for patient with myasthenia gravis.
To obtain CME credit, visit https://checkrare.com/learning/p-fcrn-and-myasthenia-gravis-treatment-options/
Activity Faculty
Richard J. Nowak, MD, MS
Director, Program in Clinical & Translational Neuromuscular Research (CTNR)
Director, Yale Myasthenia Gravis Clinic
Associate Professor of Neurology
Division of Neuromuscular Medicine
Department of Neurology
Yale School of Medicine
New Haven, CT
Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology and ophthalmology who may be involved in the diagnosis and care of individuals with MG. Other healthcare providers, including neurology NPs and PAs, may also participate.
Learning Objectives
After participating in the activity, learners should be better able to
Describe the efficacy of the treatment options for MG that target FcRn.
Compare the safety of the treatment options for MG that target FcRn.
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.25 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Other HCPs
Other members of the care team will receive a certificate of participation.
Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:
Dr. Nowak discloses the following relevant financial relationships with ineligible companies:
Advisory Board/Consultant: Alexion (part of AstraZeneca), argenx, Amgen, Cour Pharmaceuticals, Immunovant, Janssen, UCB
Grant/Research Support: Alexion (part of AstraZeneca), argenx, Amgen, Cour Pharmaceuticals, Immunovant, Janssen, UCB
Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will review off-label or investigational information.
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Method of Participation
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you in within 30 days.
Hardware/Software Requirements
Windows Requirements: • Operating system: Windows XP Service Pack 2 or later • Browser: Internet Explorer 7 or later, Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection
Macintosh Requirements: • Operating system: Mac OS X v10.3 or later • Browser: Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection
Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/
Contact
For any questions, please contact: CEServices@academycme.org
Copyright
© 2024. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).
This continuing education activity is provided by AffinityCE and CheckRare CE. This activity provides continuing education credit for physicians. A statement of participation is available for other attendees. Estimated time to complete: 0.50 hoursTo obtain CME credit, go to https://checkrare.com/learning/p-cushings-syndrome-treatment-research-highlights-endo-2024/
Commercial Support
Educational Support for this activity was provided by Recordati Rare Diseases, Inc., and Xeris Pharmaceuticals.
Learning Objective
After participating in the activity, learners should be better able to:
* Describe the latest research being presented to better manage individuals with Cushing’s syndrome and its clinical relevance.
* Share new information with their clinical team.
Activity Description
This 30-minute CME program highlights the latest clinical research about Cushing’s syndrome and Cushing’ disease.Cushing’s syndrome is rare endocrine disorder characterized by chronic hypercortisolism. It is often due to a pituitary adenoma producing excessive ACTH leading to hypercortisolism. Symptoms can range from mild to extensive.This CME program, hosted by Maria Fleseriu, MD, FACE, Professor of Medicine and Neurological Surgery, Director of the Pituitary Center at Oregon Health & Science University, provides an overview of the latest clinical research presented at ENDO 20234 involving Cushing’s syndrome.
Faculty
Maria Fleseriu, MD, FACE
Professor of Medicine and Neurological Surgery
Director of Pituitary Center
Oregon Health & Science University
Portland, Oregon
Disclosure Statement
AffinityCE and CheckRare CE staff, as well as planning and review committees, have no financial interests to disclose.
Faculty Educators
Dr. Fleseriu discloses the following relevant financial relationships with ineligible companies to disclose:
* Funding to the University as Principle Investigator from Sparrow Pharmaceuticals
* Scientific consultant for Crinetics Pharmaceuticals, Recordati Rare Diseases, Sparrow Pharmaceuticals, and Xeris Pharmaceuticals
Mitigation of Relevant Financial Relationships
AffinityCE adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CME activity, including faculty, planners, reviewers, or others, are required to disclose all relevant financial relationships with ineligible companies. Method of ParticipationThere are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre- and post-program assessments. Your certificate will be emailed to you in within 30 days.
Participation Costs
There is no cost to participate in this CME session. To receive CME credit for your participation, please complete the pre- and post-program assessments. Your certificate will be emailed to you in within 30 days.
CME Inquiries
For all CME policy-related inquiries, please contact us at ce@affinityced.com.
Send customer support requests to cds_support+ldrtc@affinityced.com.
Copyright© 2024. This CME-certified activity is held as copyrighted © by AffinityCE and CheckRare CE. Through this notice, AffinityCE and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).
Yuliya Linhares, MD is a medical oncologist specializing in the comprehensive treatment of lymphoma and serves as chief of Lymphoma Services at Miami Cancer Institute. In this video, Dr. Linhares provides an overview of cutaneous T-cell lymphoma (CTCL) and discusses some strategies for shortening the diagnostic journey of this rare cancer.
The diagnosis of CTCL is often challenging; as a result, delays in diagnosis (and subsequent work-up and treatment) can be significant. Part of the reason is the variability in how individual patients present with CTCL and its subtypes. Because mycosis fungoides progresses slowly, some patients may not experience progression beyond their initial symptoms, even beyond 10 years. Patients with mycosis fungoides or Sézary syndrome also have overlap in manifestations; in fact, Sézary syndrome was once classified as a malignant, leukemic variant of mycosis fungoides but is now recognized as a distinct CTCL subtype.
Patients with mycosis fungoides may progress through three phases of skin symptoms. The first may feature little more than transient red, scaly areas of skin on the buttocks and torso. The plaques may be hyper- or hypopigmented. As such, these symptoms can be easily misidentified as common skin conditions such as eczema or psoriasis. The variability of signs and symptoms also adds to the challenge of making a timely, clear-cut diagnosis.
In the second phase, patients with progressing disease may develop palpable, scaly, reddish-brown plaques that appear on any portion of the body. Over time, the affected areas of skin may grow, merging with other affected regions. Patients’ skin presentation during this stage can vary considerably: Some patients may experience severe pruritus or pain in these scaly bumps, which can result in sleep disturbances and other challenges to quality of life. Other patients may remain asymptomatic other than the skin’s appearance.
Disease presentation is a bit more consistent in patients who have progressed to the third phase of skin symptoms. Some patients may develop mushroom-shaped skin tumors that can cause skin ulceration and infection. Even for patients with mycosis fungoides reaching this phase of skin progression, malignant spread is uncommon (only 10% will experience metastases to major organs).
While patients with Stage III mycosis fungoides experience widespread erythema (over 80% of body surface area), erythroderma is a consistent feature of Sézary syndrome. This rash will often be associated with severe pruritus and peeling.
In addition to erythroderma and B2 blood involvement, patients with Sézary syndrome will typically have several other characteristic signs: generalized lymphadenopathy, opportunistic infections, and alopecia. The liver and possibly the spleen will be enlarged, and patients often have very thick, coarse skin on the soles of the feet and palms of the hands (i.e., palmoplantar keratoderma).
Diagnosis is usually made with a patient history, complete physical exam, blood tests, biopsy of skin lesions, computed tomography imaging, and sometimes lymph node biopsy and/or bone marrow biopsy. These methods can also be useful in determining the stage of disease, especially whether the lymph nodes have been involved and whether the cancerous cells have spread to blood and other organs. In addition to eczema and psoriasis, the differential diagnosis may include nonspecific dermatitis, lichen, lupus, pseudolymphoma, parapsoriasis, and toxidermia.
To learn more about CTCL, visit our Cutaneous T-Cell Lymphoma (CTCL) Learning Center page. https://checkrare.com/cutaneous-t-cell-lymphoma-2/
Larisa Geskin, MD, Professor of Dermatology at Columbia University Medical Center and Director of the Comprehensive Skin Cancer Center at the Division of Cutaneous Oncology in the Department of Dermatology, discusses the challenges of diagnosing cutaneous T-cell lymphoma (CTCL).
The diagnosis of CTCL is often challenging; as a result, delays in diagnosis (and subsequently work-up and treatment) can be significant. Part of the reason is the variability in how individual patients present with CTCL and its subtypes. Because mycosis fungoides progresses slowly, some patients may not experience progression beyond their initial symptoms, even beyond 10 years. Patients with mycosis fungoides or Sézary syndrome also have overlap in manifestations; in fact, Sézary syndrome was once classified as a malignant, leukemic variant of mycosis fungoides but is now recognized as a distinct CTCL subtype.
Patients with mycosis fungoides may progress through three phases of skin symptoms. The first may feature little more than transient red, scaly areas of skin on the buttocks and torso. The plaques may be hyper- or hypopigmented. As such, these symptoms can be easily misidentified as common skin conditions such as eczema or psoriasis. The variability of signs and symptoms also adds to the challenge of making a timely, clear-cut diagnosis.
In the second phase, patients with progressing disease may develop palpable, scaly, reddish-brown plaques that appear on any portion of the body. Over time, the affected areas of skin may grow, merging with other affected regions. Patients’ skin presentation during this stage can vary considerably: Some patients may experience severe pruritus or pain in these scaly bumps, which can result in sleep disturbances and other challenges to quality of life. Other patients may remain asymptomatic other than the skin’s appearance.
Disease presentation is a bit more consistent in patients who have progressed to the third phase of skin symptoms. Some patients may develop mushroom-shaped skin tumors that can cause skin ulceration and infection. Even for patients with mycosis fungoides reaching this phase of skin progression, malignant spread is uncommon (only 10% will experience metastases to major organs).
While patients with Stage III mycosis fungoides experience widespread erythema (over 80% of body surface area), erythroderma is a consistent feature of Sézary syndrome. This rash will often be associated with severe pruritus and peeling.
In addition to erythroderma and B2 blood involvement, patients with Sézary syndrome will typically have several other characteristic signs: generalized lymphadenopathy, opportunistic infections, and alopecia. The liver and possibly the spleen will be enlarged, and patients often have very thick, coarse skin on the soles of the feet and palms of the hands (i.e., palmoplantar keratoderma).
Diagnosis is usually made with a patient history, complete physical exam, blood tests, biopsy of skin lesions, computed tomography imaging, and sometimes lymph node biopsy and/or bone marrow biopsy. These methods can also be useful in determining the stage of disease, especially whether the lymph nodes have been involved and whether the cancerous cells have spread to blood and other organs. In addition to eczema and psoriasis, the differential diagnosis may include nonspecific dermatitis, lichen, lupus, pseudolymphoma, parapsoriasis, and toxidermia.
To learn more about CTCL, visit our Cutaneous T-Cell Lymphoma (CTCL) Learning Center page. https://checkrare.com/ctcl-the-role-of-dermatologists-in-diagnosing-and-caring-for-patients/
Jointly Provided by American Academy of CME and CheckRare CE.
Supported by educational grants from argenx US, Inc. and UCB Inc.
To claim credit for this program, please visit https://checkrare.com/learning/p-myasthenia-gravis-research-highlights-aan-2024/
Estimated time to complete: 0.5 hours
Start date: June 15, 2024
End date: June 30,2025
Activity Description
This accredited CME program highlights the latest clinical research about myasthenia gravis, a rare, autoimmune disease that targets the neuromuscular junction.
Treatment of myastheniagravis is highly individualized and depends greatly on the myasthenia gravis subtype of each patient as well as each patient’s comorbidities. There are currently five drugs approved by the FDA, eculizumab, efgartigimod, ravulizumab, rozanolixizumab, and zilucoplan. Clinical trial data on these therapies, as well as real world data, were presented at the American Academy of Neurology Annual Meeting (AAN 2024) held in Denver, CO.
This CME activity, hosted by Nicholas Silvestri, MD, of the University of Buffalo, provides an overview of the latest clinical research presented at AAN 2024 focused on myasthenia gravis.
Activity Faculty
Nicholas Silvestri, MD
Professor of Neurology
University of Buffalo Jacobs School of Medicine and Biomedical Sciences
Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology, ophthalmology, and general practice. Other members of the care team may also participate.
Learning Objective
After participating in the activity, learners should be better able to:
Describe the latest research being presented to better manage people with myasthenia gravis and its clinical relevance
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.5 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:
Faculty Educator
Dr. Silvestri discloses the following relevant financial relationships with ineligible companies:
Advisory Board/Consultant: argenx, Alexion, UCB, Immunovant, Janssen, Amgen
Speakers Bureau: argenx, Alexion, UCB, Takeda
Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will review off-label or investigational information.
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Method of Participation
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you in within 30 days.
Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/
Contact
For any questions, please contact: CEServices@academycme.org
Copyright
© 2024. American Academy of CME and CheckRare CE. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).
In this episode of our series focused on Fabry disease, we feature Maya Kineen, a patient and advocate with this rare disorder.
Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and affect only the heart or kidneys.
This is the second of a three-part series focusing on Fabry disease. In this episode, we talk with Nicola Longo, MD, Chief of the Division of Medical Genetics at the University of Utah, Spencer Fox Eccles School of Medicine in Salt Lake City. Dr. Longo discusses Fabry disease, including the progression of the disease and personalized medicine.
Fabry disease is an inherited disorder that results from the buildup of globotriaosylceramide or GL-3. The disorder affects many parts of the body. Signs and symptoms may include acroparesthesias, angiokeratomas, hypohidrosis, corneal opacity, and hearing loss. Potentially severe complications can include progressive kidney damage, heart attack, and stroke. Fabry disease is caused by mutations in the GLA gene and is inherited in an X-linked manner. Treatment may include enzyme replacement therapy (ERT); pain medications, ACE inhibitors; and chronic hemodialysis or renal transplantation for end stage renal disease.
In this first part of our four-part series on Fabry disease, we feature William Burns, MD, a biochemical geneticist at Greenwood Genetic Center in Greenwood, South Carolina. Dr. Burns summarizes this rare disease, including current management strategies.
Fabry disease is a lysosomal storage disorder, meaning that a glycosphingolipid called GL-3 accumulates in the lysosomes, causing tissue damage; many cell types are affected.
The disease is caused by mutations in the GLA gene, resulting in nonfunctional or dysfunctional alpha-galactosidase A, a lysosomal enzyme. The mutations can be inherited, so multiple family members can have the disease.
Fabry disease is a multisystemic disease, affecting many organs, including the heart, kidney and nervous system, resulting in life-threatening complications and a reduced life expectancy. Early signs of the disease start in childhood and adolescence, but it is a progressive, lifelong condition.
Newborn screening has now been performed in several countries, yielding a prevalence ranging from 1 in 1,368 to 1 in 8,882 births.
Ozlem Goker-Alpan, MD, Founder and President, LDRTC and David G. Warnock, MD. Professor of Medicine (Emeritus) at University of Alabama at Birmingham discuss best practices to identify and treat kidney problems associated with lysosomal disorders.
This CME/CE activity describes the pathophysiologies and management options for lysosomal disease patients with kidney problems. This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), CheckRare CE, and AffinityCE. This activity provides continuing education credit for physicians, physician assistants, nurses, nurse practitioners, and genetic counselors. A statement of participation is available to other attendees.
To receive credit for this program, go to https://checkrare.com/learning/
Speakers
Ozlem Goker-Alpan, MD, Founder and President, LDRTC
David G. Warnock, MD. Professor of Medicine (Emeritus)
University of Alabama at Birmingham
Disclosures
AffinityCE staff, LDRTC staff, CheckRare staff, planners, and reviewers, have no relevant financial interests to disclose. All faculty disclosures are listed below and are included in the beginning of each presentation.
Dr. Goker-Alpan is a consultant, a principal investigator and /or on the speaker bureau, or has received grant support, from the following pharmaceutical companies: Actelion, Amicus Therapeutics, Sanofi, Takeda, Pfizer/Protalix.
Dr. Warnock has had research support and/or consulting arrangements with Genzyme Corporation (Sanofi), Shire LLC (Takeda), Amicus, Protalix and Chiesi, Zebra Bio, Walking Fish, Hanmi, and Vera Therapeutics.
Mitigation of Relevant Financial Relationships
AffinityCE adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CME activity, including faculty, planners, reviewers, or others, are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity. Conflicts of interest for presenting faculty with relevant financial interests were resolved through peer review of content by a non-conflicted reviewer.
- Learning Objectives
- At the end of this activity, participants should be able to:
- Describe the role of the nephrologist in the team approach to care
- Describe best practices to monitor kidney function in lysosomal disorders
- Describe best practices to treat kidney disorders lysosomal disorders
Support for this educational activity was provided by Takeda, Sanofi, Amicus Therapeutics and Chiesi USA.
This 16-minute CME-accredited program, hosted by Aleena Banerji, MD, Associate Professor at Harvard Medical School and Clinical Director of the Massachusetts General Hospital ( MGH) Allergy and Immunology Unit, highlights the future treatment options for patients with hereditary angioedema (HAE) presented at ACAAI 2023.
Jointly Provided by American Academy of CME and CheckRare CE. Support for this accredited continuing education activity has been made possible through educational grant from Ionis Pharmaceuticals Inc.
Estimated time to complete: 0.25 hours
Start date: January 31, 2024
End date: January 30, 2025
To obtain CME credit, go to https://checkrare.com/learning/p-hae-treatment-advances-highlights-from-acaai/
Activity Faculty
Aleena Banerji, MD Associate Professor Clinical Director, MGH Allergy and Immunology Unit Harvard Medical School Massachusetts General Hospital Boston, MA
Target Audience
This activity has been designed to meet the educational needs of physicians specializing in allergy medicine, immunology, internal medicine, and pediatrics who may be involved in the care for individuals with HAE. Other healthcare providers (HCPs) may also participate.
Learning Objectives
After participating in the activity, learners should be better able to
• Understand clinical data of treatments in development for HAE
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team. Physicians American Academy of CME, Inc., designates this enduring material for a maximum of 0.25 AMA PRA Category 1 CreditsTM.
Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Other HCPs Other members of the care team will receive a certificate of participation.
Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:
Faculty Educator
Dr. Banerji discloses the following relevant financial relationships with ineligible companies:
• Research Grant: Takeda, Ionis Pharmaceuticals, Astria
• Advisory Board: Takeda, BioCryst, Astria, Intellia, CSL Behring, KalVista, ADARx
Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will review off-label or investigational information. The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Method of Participation
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity.
To receive CME credit for your participation, please complete the pre and post-program assessments at https://checkrare.com/learning/p-hae-treatment-advances-highlights-from-acaai/ Your certificate will be emailed to you in within 30 days.
Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm
For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/ Contact
For any questions, please contact: CEServices@academycme.org
Copyright © 2024. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).
This 25-minute CME-accredited program, hosted by Aleena Banerji, MD, Associate Professor at Harvard Medical School and Clinical Director of the Massachusetts General Hospital ( MGH) Allergy and Immunology Unit, highlights the current treatment options for patients with hereditary angioedema (HAE).
Jointly Provided by American Academy of CME and CheckRare CE. Support for this accredited continuing education activity has been made possible through educational grant from Ionis Pharmaceuticals Inc.
Estimated time to complete: 0.50 hours
Start date: January 31, 2024
End date: January 30, 2025
To obtain CME credit, go to https://checkrare.com/learning/p-hereditary-angioedema-current-treatment-options/
Activity Faculty
Aleena Banerji, MD Associate Professor Clinical Director, MGH Allergy and Immunology Unit Harvard Medical School Massachusetts General Hospital Boston, MA
Target Audience
This activity has been designed to meet the educational needs of physicians specializing in allergy medicine, immunology, internal medicine, and pediatrics who may be involved in the care for individuals with HAE. Other healthcare providers (HCPs) may also participate.
Learning Objectives
After participating in the activity, learners should be better able to
• Review current guidelines and unmet needs of patients with HAE
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team. Physicians American Academy of CME, Inc., designates this enduring material for a maximum of 0.50 AMA PRA Category 1 CreditsTM.
Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Other HCPs Other members of the care team will receive a certificate of participation.
Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:
Faculty Educator
Dr. Banerji discloses the following relevant financial relationships with ineligible companies:
• Research Grant: Takeda, Ionis Pharmaceuticals, Astria
• Advisory Board: Takeda, BioCryst, Astria, Intellia, CSL Behring, KalVista, ADARx
Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will review off-label or investigational information. The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Method of Participation
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity.
To receive CME credit for your participation, please complete the pre and post-program assessments at https://checkrare.com/learning/p-hereditary-angioedema-current-treatment-options/ Your certificate will be emailed to you in within 30 days.
Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm
For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/ Contact
For any questions, please contact: CEServices@academycme.org
Copyright © 2024. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).
Ozlem Goker-Alpan, MD of LDRTC and John Bach, MD, Professor of Neurology at Rutgers School of Medicine discuss best practices to manage respiratory complications in persons with lysosomal disorders.
This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), CheckRare CE, and AffinityCE. This activity provides continuing education credit for physicians, physician assistants, nurses, nurse practitioners, and genetic counselors. A statement of participation is available to other attendees.
To receive credit for this program, visit https://checkrare.com/learning/p-ldrtc2023-webinar3-assessing-monitoring-managing-respiratory-involvement-in-lysosomal-disorders/
Disclosures
AffinityCE staff, LDRTC staff, CheckRare staff, planners, and reviewers, have no relevant financial interests to disclose. All faculty disclosures are listed below and are included in the beginning of each presentation.
Ozlem Goker-Alpan, MD
Founder and President, Lysosomal & Rare Disorders Research & Treatment Center (LDRTC).
Dr. Goker-Alpan is a consultant, a principal investigator and /or on the speaker bureau, or has received grant support, from the following pharmaceutical companies: Actelion, Amicus Therapeutics, Sanofi, Takeda, Pfizer/Protalix.
John Bach, MD
Professor of Physical Medicine and Rehabilitation, Professor of Neurology, Rutgers New Jersey Medical Center.
Dr. Bach has no relevant financial interest to disclose.
Mitigation of Relevant Financial Relationships
AffinityCE adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CME activity, including faculty, planners, reviewers, or others, are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity. Conflicts of interest for presenting faculty with relevant financial interests were resolved through peer review of content by a non-conflicted reviewer.
Learning Objectives
At the end of this activity, participants should be able to:
• Describe the most common LSDs that have pulmonary complications.
• Describe best practices to manage pulmonary symptoms in Pompe disease.
• Describe best practices to manage pulmonary symptoms in MPSs.
• Describe best practices to manage sleep apnea in lysosomal diseases.
Physicians
This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited by the ACCME to provide continuing medical education for physicians.
AffinityCE designates this enduring activity for a maximum of 1.25 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Physician Assistants
AffinityCE designates this enduring activity for a maximum of 1.25 AMA PRA Category 1 Credits™. Physician Assistants should claim only the credit commensurate with the extent of their participation in the activity.
Nurses
Continuing Nursing Education is provided for this program through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited as a provider of nursing continuing professional development by the American Nurses Credentialing Center’s Commission on Accreditation (ANCC). This activity provides a maximum of 1.25 hours of continuing nursing education credit.
Nurse Practitioners
AffinityCE designates this enduring activity for a maximum of 1.25 AMA PRA Category 1 Credits™. Nurse practitioners should claim only the credit commensurate with the extent of their participation in the activity.
Genetic Counselors
Category 2 CEU
AffinityCE designates this enduring activity for a maximum of 1.25 AMA PRA Category 1 Credit™. Genetic counselors should claim only the credit commensurate with the extent of their participation in the activity.
Other Professionals
All other health care professionals completing this continuing education activity will be issued a statement of participation indicating the number of hours of continuing education credit. This may be used for professional education CE credit. Please consult your accrediting organization or licensing board for their acceptance of this CE activity.
Commercial Support
Support for this educational activity was provided by Takeda, Sanofi, Amicus Therapeutics and Chiesi USA.
Participation Costs
There is no cost to participate in this activity.
CME Inquiries
For all CME policy-related inquiries, please contact us at ce@affinityced.com.
Send customer support requests to cds_support+ldrtc@affinityced.com.
This 40-minute CME-accredited program, hosted by Aleena Banerji, MD, Associate Professor at Harvard Medical School and Clinical Director of the Massachusetts General Hospital ( MGH) Allergy and Immunology Unit, highlights the current and future treatment options for patients with hereditary angioedema (HAE).
Jointly Provided by American Academy of CME and CheckRare CE. Support for this accredited continuing education activity has been made possible through educational grant from Ionis Pharmaceuticals Inc.
Estimated time to complete: 0.75 hours
Start date: January 31, 2024
End date: January 30, 2025
To obtain CME credit, go to https://checkrare.com/learning/p-hereditary-angioedema-current-and-future-treatment-options/
Activity Faculty
Aleena Banerji, MD Associate Professor Clinical Director, MGH Allergy and Immunology Unit Harvard Medical School Massachusetts General Hospital Boston, MA
Target Audience
This activity has been designed to meet the educational needs of physicians specializing in allergy medicine, immunology, internal medicine, and pediatrics who may be involved in the care for individuals with HAE. Other healthcare providers (HCPs) may also participate.
Learning Objectives
After participating in the activity, learners should be better able to
• Review current guidelines and unmet needs of patients with HAE
• Understand clinical data of treatments in development for HAE
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team. Physicians American Academy of CME, Inc., designates this enduring material for a maximum of 0.75 AMA PRA Category 1 CreditsTM.
Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Other HCPs Other members of the care team will receive a certificate of participation.
Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:
Faculty Educator
Dr. Banerji discloses the following relevant financial relationships with ineligible companies:
• Research Grant: Takeda, Ionis Pharmaceuticals, Astria
• Advisory Board: Takeda, BioCryst, Astria, Intellia, CSL Behring, KalVista, ADARx
Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will review off-label or investigational information. The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Method of Participation
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity.
To receive CME credit for your participation, please complete the pre and post-program assessments at https://checkrare.com/learning/p-hereditary-angioedema-current-and-future-treatment-options/ Your certificate will be emailed to you in within 30 days.
Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm
For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/ Contact
For any questions, please contact: CEServices@academycme.org
Copyright © 2024. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).
In this final episode of our four-part series focused on alpha-mannosidosis, we feature Rhonda Skipper, a mom of two boys, Dale and Matt, who have this rare disease.
Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressive form (type 1); a moderate form (type 2); and a severe, often rapidly progressive and potentially life-threatening form (type 3).
The symptoms and severity of the disorder are highly variable. Signs may include distinctive facial features, skeletal abnormalities, hearing loss, intellectual disability, and dysfunction of the immune system. Alpha-mannosidosis is caused by mutations of the MAN2B1 gene. This genetic mutation is inherited as an autosomal recessive trait.
This is the third of a four-part series focusing on alpha-mannosidosis. In this episode, we feature Dr. Markey McNutt, who will focus on the challenges of identifying and caring for patients with this rare disease. Dr. McNutt is a Clinical Geneticist at the University of Texas Southwestern Medical Center in Dallas.
Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressive form (type 1); a moderate form (type 2); and a severe, often rapidly progressive and potentially life-threatening form (type 3).
The symptoms and severity of the disorder are highly variable. Signs may include distinctive facial features, skeletal abnormalities, hearing loss, intellectual disability, and dysfunction of the immune system. Alpha-mannosidosis is caused by mutations of the MAN2B1 gene. This genetic mutation is inherited as an autosomal recessive trait.
This is the second of a four-part series focusing on alpha-mannosidosis. In this episode, we talk with Dr. Reid Sutton on the challenges of recognizing this rare disease, focusing on the signs and symptoms. Dr. Sutton is a Clinical Geneticist and a Clinical Biochemical Geneticist at Baylor College of Medicine and Texas Children’s Hospital in Houston.
Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressive form (type 1); a moderate form (type 2); and a severe, often rapidly progressive and potentially life-threatening form (type 3).
The symptoms and severity of the disorder are highly variable. Signs may include distinctive facial features, skeletal abnormalities, hearing loss, intellectual disability, and dysfunction of the immune system. Alpha-mannosidosis is caused by mutations of the MAN2B1 gene. This genetic mutation is inherited as an autosomal recessive trait.
In this first part of our four-part series on alpha-mannosidosis, we feature Laura Buch, a physician assistant who practices medical genetics at the Greenwood Genetic Center in South Carolina. Laura’s work focuses on the diagnosis and treatment of patients with abnormal newborn screens, inborn errors of metabolism, and lysosomal storage disorders. She also cares for alpha-mannosidosis patients.
Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressive form (type 1); a moderate form (type 2); and a severe, often rapidly progressive and potentially life-threatening form (type 3).
The symptoms and severity of the disorder are highly variable. Signs may include distinctive facial features, skeletal abnormalities, hearing loss, intellectual disability, and dysfunction of the immune system. Alpha-mannosidosis is caused by mutations of the MAN2B1 gene. This genetic mutation is inherited as an autosomal recessive trait.
This 30-minute CME-accredited program highlights the connection between the complement system and myasthenia gravis in regards to the treatment of this rare disease.
Jointly Provided by American Academy of CME and CheckRare CE. Support for this accredited continuing education activity has been made possible through educational grant from UCB.
Start date: December 18, 2023. End date: December 18, 2024
To receive CME credit, go to https://checkrare.com/learning/p-myasthenia-gravis-and-the-complement-system-treatment-options/
Activity Faculty
James F Howard Jr, MD
Professor of Neurology, Medicine & Allied Health
Department of Neurology
The University of North Carolina at Chapel Hill
Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology who may be involved in the diagnosis and care for individuals with TIO. Other healthcare providers, including neurology NPs and PAs, may also participate.
Learning Objectives
After participating in the activity, learners should be better able to
Describe efficacy of the treatment options for MG that target the complement system.
Compare the safety of the treatment options for MG that target the complement system.
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.5 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Other HCPs
Other members of the care team will receive a certificate of participation.
Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:
Faculty Educator
Dr. Howard discloses the following relevant financial relationships with ineligible companies:
Grant/Research support (paid to his institution): Alexion Pharmaceuticals, argenx, Cartesian Therapeutics, Centers for Disease Control and Prevention, Myasthenia Gravis Foundation of America, Muscular Dystrophy Association, National Institutes of Health (including the National Institute of Neurological Disorders and Stroke and the National Institute of Arthritis and Musculoskeletal and Skin Diseases), Patient-Centered Outcomes Research Institute, and Ra Pharmaceuticals (now UCB Biosciences).
Advisory Board/Consultant: Alexion Pharmaceuticals, argenx, Biologix Pharma, F. Hoffman-LaRoche Ltd, Immunovant Inc., Merck EMD Serono, NMD Pharma, Novartis Pharmaceuticals, Ra Pharmaceuticals (now UCB Biosciences), Regeneron Pharmaceuticals, Sanofi US, Horizon Therapeutics (now Amgen) Toleranzia AB, and Zai Labs.
Shareholder (as part of a family trust): Johnson & Johnson, Pfizer, General Electric, GE Healthcare, GlaxoSmithKline, Viatris
Non-financial Support (meeting travel): Alexion Pharmaceuticals, argenx, Ra Pharmaceuticals (now UCB Biosciences), Toleranzia AB.
Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will review off-label or investigational information.
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Method of Participation
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you in within 30 days.
Hardware/Software Requirements
Windows Requirements: • Operating system: Windows XP Service Pack 2 or later • Browser: Internet Explorer 7 or later, Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection
Macintosh Requirements: • Operating system: Mac OS X v10.3 or later • Browser: Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection
Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm For more information about CheckRare’s privacy policy,
please access https://checkrare.com/privacy/
Contact
For any questions, please contact: CEServices@academycme.org
Copyright
© 2023. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).
This 15-minute CME-accredited program highlights the connection between the complement system and myasthenia gravis in regards to the pathophysiology of this rare disease.
Jointly Provided by American Academy of CME and CheckRare CE. Support for this accredited continuing education activity has been made possible through educational grant from UCB.
Start date: December 18, 2023. End date: December 18, 2024
To receive CME credit, go to https://checkrare.com/learning/p-myasthenia-gravis-and-the-complement-system-pathophysiology/
Activity Faculty
James F Howard Jr, MD
Professor of Neurology, Medicine & Allied Health
Department of Neurology
The University of North Carolina at Chapel Hill
Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology who may be involved in the diagnosis and care for individuals with TIO. Other healthcare providers, including neurology NPs and PAs, may also participate.
Learning Objectives
After participating in the activity, learners should be better able to
Describe efficacy of the treatment options for MG that target the complement system.
Compare the safety of the treatment options for MG that target the complement system.
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.5 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Other HCPs
Other members of the care team will receive a certificate of participation.
Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:
Faculty Educator
Dr. Howard discloses the following relevant financial relationships with ineligible companies:
Grant/Research support (paid to his institution): Alexion Pharmaceuticals, argenx, Cartesian Therapeutics, Centers for Disease Control and Prevention, Myasthenia Gravis Foundation of America, Muscular Dystrophy Association, National Institutes of Health (including the National Institute of Neurological Disorders and Stroke and the National Institute of Arthritis and Musculoskeletal and Skin Diseases), Patient-Centered Outcomes Research Institute, and Ra Pharmaceuticals (now UCB Biosciences).
Advisory Board/Consultant: Alexion Pharmaceuticals, argenx, Biologix Pharma, F. Hoffman-LaRoche Ltd, Immunovant Inc., Merck EMD Serono, NMD Pharma, Novartis Pharmaceuticals, Ra Pharmaceuticals (now UCB Biosciences), Regeneron Pharmaceuticals, Sanofi US, Horizon Therapeutics (now Amgen) Toleranzia AB, and Zai Labs.
Shareholder (as part of a family trust): Johnson & Johnson, Pfizer, General Electric, GE Healthcare, GlaxoSmithKline, Viatris
Non-financial Support (meeting travel): Alexion Pharmaceuticals, argenx, Ra Pharmaceuticals (now UCB Biosciences), Toleranzia AB.
Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will review off-label or investigational information.
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Method of Participation
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you in within 30 days.
Hardware/Software Requirements
Windows Requirements: • Operating system: Windows XP Service Pack 2 or later • Browser: Internet Explorer 7 or later, Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection
Macintosh Requirements: • Operating system: Mac OS X v10.3 or later • Browser: Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection
Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/
Contact: CEServices@academycme.org
Copyright
© 2023. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).
This 45-minute CME-accredited program highlights the connection between the complement system and myasthenia gravis in regards to the pathophysiology and treatment of this rare disease.
Jointly Provided by American Academy of CME and CheckRare CE. Support for this accredited continuing education activity has been made possible through educational grant from UCB.
Start date: December 18, 2023. End date: December 18, 2024
To receive CME credit, go to https://checkrare.com/learning/p-myasthenia-gravis-and-the-complement-system/
Activity Faculty
James F Howard Jr, MD
Professor of Neurology, Medicine & Allied Health
Department of Neurology
The University of North Carolina at Chapel Hill
Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology who may be involved in the diagnosis and care for individuals with TIO. Other healthcare providers, including neurology NPs and PAs, may also participate.
Learning Objectives
After participating in the activity, learners should be better able to
Describe efficacy of the treatment options for MG that target the complement system.
Compare the safety of the treatment options for MG that target the complement system.
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.5 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Other HCPs
Other members of the care team will receive a certificate of participation.
Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:
Faculty Educator
Dr. Howard discloses the following relevant financial relationships with ineligible companies:
Grant/Research support (paid to his institution): Alexion Pharmaceuticals, argenx, Cartesian Therapeutics, Centers for Disease Control and Prevention, Myasthenia Gravis Foundation of America, Muscular Dystrophy Association, National Institutes of Health (including the National Institute of Neurological Disorders and Stroke and the National Institute of Arthritis and Musculoskeletal and Skin Diseases), Patient-Centered Outcomes Research Institute, and Ra Pharmaceuticals (now UCB Biosciences).
Advisory Board/Consultant: Alexion Pharmaceuticals, argenx, Biologix Pharma, F. Hoffman-LaRoche Ltd, Immunovant Inc., Merck EMD Serono, NMD Pharma, Novartis Pharmaceuticals, Ra Pharmaceuticals (now UCB Biosciences), Regeneron Pharmaceuticals, Sanofi US, Horizon Therapeutics (now Amgen) Toleranzia AB, and Zai Labs.
Shareholder (as part of a family trust): Johnson & Johnson, Pfizer, General Electric, GE Healthcare, GlaxoSmithKline, Viatris
Non-financial Support (meeting travel): Alexion Pharmaceuticals, argenx, Ra Pharmaceuticals (now UCB Biosciences), Toleranzia AB.
Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will review off-label or investigational information.
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Method of Participation
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you in within 30 days.
Hardware/Software Requirements
Windows Requirements: • Operating system: Windows XP Service Pack 2 or later • Browser: Internet Explorer 7 or later, Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection
Macintosh Requirements: • Operating system: Mac OS X v10.3 or later • Browser: Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connection
Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/
Contact: CEServices@academycme.org
Copyright
© 2023. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).
Jointly Provided by American Academy of CME and CheckRare CE Support for this accredited continuing education activity has been made possible through an educational grant from Kyowa Kirin.
Estimated time to complete: 0.25 hours
Start date: November 30, 2023 End date: November 30, 2024
This 15-minute CME-accredited program, hosted by Aliya Khan, MD, Clinical Professor of Medicine at McMaster University, highlights the best practices to diagnose tumor induced osteomalacia (TIO) based on the recently published guidelines in the Journal of Internal Medicine.
To earn credit, go to https://checkrare.com/learning/p-new-guidance-to-treat-tumor-induced-osteomalacia-tio-2023-3/
Activity Faculty
Aliya Khan MD, FRCPC, FACP, FACE, FASBMR Clinical Professor of Medicine Director, Calcium Disorders Clinic Director, Fellowship in Metabolic Bone Disease McMaster University
Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology, orthopedics, internal medicine/general practice, rheumatology, endocrinology, pain management, and radiology, who may be involved in the care for individuals with TIO. Other healthcare providers may also participate.
Learning Objectives
After participating in the activity, learners should be better able to
• Describe the latest recommendations for treating patients with TIO
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.25 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Other HCPs
Other members of the care team will receive a certificate of participation.
Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:
Faculty Educator
Dr. Khan discloses the following relevant financial relationships with ineligible companies to disclose:
• Advisory Board/Consultant: Amgen, Ascendis, Alexion
• Grant/Research support: Ascendis, Alexion, Amolyt
• Speakers Bureaus: Amgen, Ascendis, Alexion
Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will review off-label or investigational information.
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Method of Participation
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments at:
https://checkrare.com/learning/p-new-guidance-to-treat-tumor-induced-osteomalacia-tio-2023-3/
Your certificate will be emailed to you in within 30 days.
Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/
Contact
For any questions, please contact: CEServices@academycme.org Copyright © 2023.
This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).
Jointly Provided by American Academy of CME and CheckRare CE Support for this accredited continuing education activity has been made possible through educational grant from Kyowa Kirin.
Estimated time to complete: 0.25 hours
Start date: November 30, 2023 End date: November 30, 2024
This 15-minute CME-accredited program, hosted by Aliya Khan, MD, Clinical Professor of Medicine at McMaster University, highlights the best practices to diagnose tumor induced osteomalacia (TIO) based on the recently published guidelines in the Journal of Internal Medicine.
To earn credit, go to https://checkrare.com/learning/p-new-guidance-to-diagnose-tumor-induced-osteomalacia-tio-2023-2/
Activity Faculty
Aliya Khan MD, FRCPC, FACP, FACE, FASBMR Clinical Professor of Medicine Director, Calcium Disorders Clinic Director, Fellowship in Metabolic Bone Disease McMaster University
Target Audience
This activity has been designed to meet the educational needs of physicians specializing in neurology, orthopedics, internal medicine/general practice, rheumatology, endocrinology, pain management, and radiology, who may be involved in the care for individuals with TIO. Other healthcare providers may also participate.
Learning Objectives
After participating in the activity, learners should be better able to
• Describe the latest recommendations for diagnosing patients with TIO
Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.25 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Other HCPs
Other members of the care team will receive a certificate of participation.
Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows:
Faculty Educator
Dr. Khan discloses the following relevant financial relationships with ineligible companies to disclose:
• Advisory Board/Consultant: Amgen, Ascendis, Alexion
• Grant/Research support: Ascendis, Alexion, Amolyt
• Speakers Bureaus: Amgen, Ascendis, Alexion
Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will review off-label or investigational information.
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Method of Participation
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments at:
https://checkrare.com/learning/p-new-guidance-to-diagnose-tumor-induced-osteomalacia-tio-2023-2/
Your certificate will be emailed to you in within 30 days.
Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/
Contact
For any questions, please contact: CEServices@academycme.org Copyright © 2023.
This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).
Jointly Provided by the American Academy of CME and CheckRare CE Support for this accredited continuing education activity has been made possible through an educational grant from Kyowa Kirin. Estimated time to complete: 0.50 hours Start date: November 30, 2023 End date: November 30, 2024 This 15-minute CME-accredited program, hosted by Aliya Khan, MD, Clinical Professor of Medicine at McMaster University, highlights the best practices to diagnose tumor induced osteomalacia (TIO) based on the recently published guidelines in the Journal of Internal Medicine.
To earn credit, go to https://checkrare.com/learning/p-new-guidance-to-diagnose-and-treat-tumor-induced-osteomalacia-tio-2023-1/
Activity Faculty Aliya Khan MD, FRCPC, FACP, FACE, FASBMR Clinical Professor of Medicine Director, Calcium Disorders Clinic Director, Fellowship in Metabolic Bone Disease McMaster University
Target Audience: This activity is designed to meet the educational needs of physicians specializing in neurology, orthopedics, internal medicine/general practice, rheumatology, endocrinology, pain management, and radiology, who may be involved in the care for individuals with TIO. Other healthcare providers may also take part.
Learning Objectives: After participating in the activity, learners should be better able to • Describe the latest recommendations for diagnosing patients with TIO• Describe the latest recommendations for treating patients with TIO
Accreditation and Credit Designation: In support of improving patient care, this activity has been planned and implemented by the American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Physicians American Academy of CME, Inc., designates this enduring material for a maximum of 0.25 AMA PRA Category 1 Credits. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Other members of the care team will receive a certificate of participation.
Disclosure Statement: According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows: Faculty Educator Dr. Khan discloses the following relevant financial relationships with ineligible companies to disclose: • Advisory Board/Consultant: Amgen, Ascendis, Alexion • Grant/Research support: Ascendis, Alexion, Amolyt • Speakers Bureaus: Amgen, Ascendis, Alexion
Planners for this activity have no relevant financial relationships with any ineligible companies.
This activity will review off-label or investigational information.
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically and draw conclusions only after careful consideration of all available scientific information.
Method of Participation: There are no fees to participate in the activity. Participants must review the activity information, including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments at: https://checkrare.com/learning/p-new-guidance-to-diagnose-and-treat-tumor-induced-osteomalacia-tio-2023-1/. Your certificate will be emailed to you in within 30 days.
Privacy For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/
For any questions, please contact: CEServices@academycme.org Copyright © 2023.
This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).
This 30-min CME program provides an overview of the latest clinical research presented at ENDO 2023 involving Cushing’s disease.
Faculty
Lisa Nachtigall, MD
Clinical Director, Neuroendocrine & Pituitary Tumor Clinical Center
Massachusetts General Hospital
Associate Professor of Medicine
Harvard Medical School
Learning Objectives
- After participating in the activity, learners should be better able to:
- Describe the latest research being presented to better manage individuals with Cushing’s disease and its clinical relevance.
- Share new information with their clinical team.
Supported by an educational grant from Recordati Rare Diseases, Inc.
To obtain CME credit, go to https://checkrare.com/learning/p-cushings-disease-research-highlights-endo-2023/
This CME/CE activity describes the pathophysiologies and management options for lysosomal disease patients with cardiomyopathies. This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), CheckRare CE, and AffinityCE.
This activity provides continuing education credit for physicians, physician assistants, nurses, nurse practitioners, and genetic counselors. A statement of participation is available to other attendees. To receive credit for this program, go to https://checkrare.com/learning/p-ldrtc2022-webinar2-managing-cardiomyopathies-in-lysosomal-disorders/
Speakers
Ozlem Goker-Alpan, MD, Founder and President, LDRTC
John Jefferies, MD, Governor, American College Cardiology, Tennessee Chapter President, American Heart Association, Mid-South Chapter Research Member, St. Jude Children’s Research Hospital Team Cardiologist, Memphis Grizzlies
.Learning ObjectivesAt the end of this activity, participants should be able to:
* Describe the role of the cardiologist in the team approach to care
* Describe best practices to monitor cardiac symptoms in lysosomal disorders
* Describe best practices to treat cardiac symptoms in lysosomal disorders
Support for this educational activity was provided by Takeda, Sanofi, Amicus Therapeutics and Chiesi USA.
This 30-minute CME program highlights the latest clinical research about acromegaly, a rare, endocrine disorder.
Activity Faculty Wenyu Huang, MD, PhD Associate Professor Northwestern University Feinberg School of Medicine Chicago, IL
Support for this accredited continuing education activity has been made possible through educational grants from Recordati Rare Diseases Inc. and Ipsen Biopharmaceuticals, Inc.
To earn a CME credit, go to https://checkrare.com/learning/p-acromegaly-research-highlights-endo-2023/
Estimated time to complete: 0.5 hours Start date: Sep 30, 2023 End date: September 29, 2024
Target Audience: This activity has been designed to meet the educational needs of physicians specializing in endocrinology, neurosurgery, and family practice who may care for individuals with acromegaly. Other healthcare providers may also participate. Learning
Objectives After participating in the activity, learners should be better able to • Describe the latest research being presented to better manage individuals with acromegaly and its clinical relevance.
Accreditation and Credit Designation In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team. Physicians American Academy of CME, Inc., designates this enduring material for a maximum of 0.5 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Other HCPs: Other members of the care team will receive a certificate of participation.
Disclosure Statement According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.
Disclosure of relevant financial relationships are as follows: Dr. Huang discloses the following relevant financial relationships with ineligible companies to disclose: Contracted research: Amryt Pharma, CinCor Pharma, Corcept Therapeutics, Crinetics Pharmaceuticals, Ionis Pharmaceuticals, Ascendis Pharma, Spruce Bioscience Consulting: Novo Nordisk, Crinetics Pharmaceuticals, Spruce Bioscience o Consulting and Speaking: Amryt Pharma, Recordati Rare Diseases
Other planners for this activity have no relevant financial relationships with any ineligible companies. This activity will review off-label or investigational information.
The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE.
This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Method of Participation There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity.
To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you in within 30 days.
Privacy For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm
For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/
Contact For any questions, please contact: CEServices@academycme.org Copyright © 2023.
This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).
Raymond Douglas, MD, PhD, a world-leading clinician and thought leader in thyroid eye disease (TED) who has been integral to developing therapeutics for the disease, provides an overview of TED, including diagnosis challenges and current and emerging treatments for this rare disease.
TED is a rare autoimmune disease that can dramatically impact a person’s vision. The condition often occurs in people with hyperthyroidism or Graves’ disease. Common symptoms can include upper eyelid retraction, dry eyes, inflammation, light sensitivity, as well as the sensation of a foreign body present in the eye.
TED is most often associated with Graves’ disease (GD), but also can occur in association with hypothyroidism, euthyroidism, and Hashimoto’s thyroiditis. GD affects approximately 1% to 2% of the adult population, with an estimated 40% of GD patients subsequently developing TED over the course of their lifetime. The onset of TED typically occurs between 30 and 50 years of age, with the disease course more severe after age 50.
Dr. Douglas has been appointed as Chief Scientific Officer at Sling Therapeutics.
This 30-minute CME program highlights the latest clinical research about myasthenia gravis, a rare, autoimmune disease that targets the neuromuscular junction.
Treatment of myasthenia gravis is highly individualized and depends greatly on the myasthenia gravis subtype of each patient as well as each patient’s comorbidities. There are currently four drugs approved by the FDA, eculizumab, efgartigimod, ravulizumab, and rozanolixizumab. There are also treatments in development. Clinical trial data on these therapies were presented at the American Academy of Neurology Annual Meeting (AAN 2023) held in Boston, MA.
This CME program, hosted by Vera Bril, MD, of the University Hospital Network in Toronto, Canada, provides an overview of the latest clinical research presented at AAN 2023 focused on myasthenia gravis.
Supported by educational grants from argenx US, Inc. and UCB Inc. For complete activity information and to obtain CME credit, please, go to https://checkrare.com/learning/p-myasthenia-gravis-research-highlights-aan-2023/
This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), CheckRare CE, and AffinityCE. This activity provides continuing education credit for physicians, physician assistants, nurses, nurse practitioners, and genetic counselors. A statement of participation is available to other attendees.
Speakers
* Ozlem Goker-Alpan, MD Founder and President, Lysosomal & Rare Disorders Research & Treatment Center (LDRTC)
* Al-Hertani, MD, Director of the BCH Metabolism and Lysosomal Programs, Boston Children’s Hospita; lAssociate Professor of Pediatrics, Harvard Medical School
Learning Objectives
At the end of this activity, participants should be able to:
* Describe the need for a team approach to care
* Describe best practices to build a multidisciplinary team for a new patient
* Describe best practices to maintain a multidisciplinary team
Support for this educational activity was provided by Takeda, Sanofi, Amicus Therapeutics, and Chiesi USA.
To earn credit for this CME, go to https://checkrare.com/learning/p-building-and-maintaining-a-multidisciplinary-team-for-lysosomal-disorders/
Sindhu Ramchandren, MD, Global Clinical Leader at Janssen Pharmaceuticals, explains the pathophysiology of myasthenia gravis and the need for more targeted therapies.
Myasthenia gravis is an autoimmune, neuromuscular disorder characterized by weakness of the skeletal muscles. Common symptoms include weakness of the muscles that control the eyes, eyelids, facial expressions, chewing, talking, and swallowing. The presence of antibodies against acetylcholine receptors in the neuromuscular junction usually causes the condition.
As Dr. Ramchandren explains, myasthenia gravis is an autoimmune disease in which the person’s own immune system attacks ACh-receptors on the neuromuscular junction. The current standard of care for myasthenia gravis is to suppress the immune system, usually with broad-acting immunosuppressants. Dr. Ramchandren believes a more targeted approach would be of greater benefit to patients. Janssen is currently developing nipocalimab, a monoclonal antibody that binds to neonatal Fc receptors (FcRn). FcRn is a protein that naturally drives IgG recycling in the body. By blocking FcRn, nipocalimab reduces the levels of IgG autoantibodies while preserving the rest of the immune system.
Recently, in a phase 2 clinical trial, patients with myasthenia gravis were given nipocalimab. As a result, a dose-dependent rapid effect was observed on various disease biomarkers, including reduced titers of autoantibodies. Currently, A phase 3 clinical trial is underway (NCT04951622). To learn more about this and other autoimmune disorders, go to checkrare.com/diseases/autoimmune-auto-inflammatory-disorders/
Sindhu Ramchandren, MD, Global Clinical Leader at Janssen Pharmaceuticals, explains the pathophysiology of myasthenia gravis and the need for more targeted therapies.
Myasthenia gravis is an autoimmune, neuromuscular disorder characterized by weakness of the skeletal muscles. Common symptoms include weakness of the muscles that control the eyes, eyelids, facial expressions, chewing, talking, and swallowing. The condition is usually caused by antibodies against acetylcholine receptors in the neuromuscular junction.
As Dr. Ramchandren explains, myasthenia gravis is an autoimmune disease in which the person’s own immune system attacks ACh-receptors on the neuromuscular junction. The current standard of care for myasthenia gravis is to suppress the immune system, usually with broad-acting immunosuppressants. Dr. Ramchandren believes a more targeted approach would be of greater benefit to patients. Janssen is currently developing nipocalimab, a monoclonal antibody that binds to neonatal Fc receptors (FcRn). FcRn are proteins that naturally drive IgG recycling in the body. By blocking FcRn, unplumb reduces the levels of IgG autoantibodies while preserving the rest of the immune system.
Recently, in a phase 2 clinical trial, patients with myasthenia gravis were given nipocalimab. As a result, a dose-dependent rapid effect was observed on various disease biomarkers, including reduced titers of autoantibodies.
Currently, a phase 3 clinical trial is underway (NCT04951622). To learn more about this and other autoimmune disorders, go to checkrare.com/diseases/autoimmune-auto-inflammatory-disorders/
Warm autoimmune hemolytic anemia (wAIHA) is the most common type (60-70%) of autoimmune hemolytic anemia (AIHA). In most cases, wAIHA is due an immunoglobulin G (IgG) autoantibody that binds to red blood cells (RBC), leading to hemolysis. Current recommendations for managing people with wAIHA are largely based on case series and retrospective studies involving off-label medications. Also, while there are currently no medications specifically approved to treat wAIHA, data are emerging on new therapies under investigation which may impact treatment in the future.
This 60-minute CME program, hosted by Irina Murakhovskaya, MD, of the Montefiore Medical Center, Albert Einstein College of Medicine, in New York, NY and Bruno Fattizzo, MD, of the University of Milan and Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, in Milan, Italy, describes current treatment options, and treatments in development, for patients with wAIHA.
Supported by an educational grant from Janssen Biotech.
For complete activity information and to obtain CME credit, please, go to
Warm autoimmune hemolytic anemia (wAIHA) is the most common type (60-70%) of autoimmune hemolytic anemia (AIHA). In most cases, wAIHA is due an immunoglobulin G (IgG) autoantibody that binds to red blood cells (RBC), leading to hemolysis.
Current recommendations for managing people with wAIHA are largely based on case series and retrospective studies involving off-label medications. Also, while there are currently no medications specifically approved to treat wAIHA, data are emerging on new therapies under investigation which may impact treatment in the future.
This 60-minute CME program, hosted by Irina Murakhovskaya, MD, of the Montefiore Medical Center, Albert Einstein College of Medicine, in New York, NY and Bruno Fattizzo, MD, of the University of Milan and Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, in Milan, Italy, describes common complications that can impact the management of patients with wAIHA.
Supported by an educational grant from Janssen Biotech.
For complete activity information and to obtain CME credit, please, go to www.checkrare.com
Warm autoimmune hemolytic anemia (wAIHA) is the most common type (60-70%) of autoimmune hemolytic anemia (AIHA). In most cases, wAIHA is due an immunoglobulin G (IgG) autoantibody that binds to red blood cells (RBC), leading to hemolysis.
Current recommendations for managing people with wAIHA are largely based on case series and retrospective studies involving off-label medications. Also, while there are currently no medications specifically approved to treat wAIHA, data are emerging on new therapies under investigation which may impact treatment in the future.
This 60-minute CME program, hosted by Irina Murakhovskaya, MD, of the Montefiore Medical Center, Albert Einstein College of Medicine, in New York, NY and Bruno Fattizzo, MD, of the University of Milan and Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, in Milan, Italy, describes best practices to diagnose patients with wAIHA.
Supported by an educational grant from Janssen Biotech.
For complete activity information and to obtain CME credit, please, go to www.checkrare.com
Warm autoimmune hemolytic anemia (wAIHA) is the most common type (60-70%) of autoimmune hemolytic anemia (AIHA). In most cases, wAIHA is due an immunoglobulin G (IgG) autoantibody that binds to red blood cells (RBC), leading to hemolysis. Current recommendations for managing people with wAIHA are largely based on case series and retrospective studies involving off-label medications. Also, while there are currently no medications specifically approved to treat wAIHA, data are emerging on new therapies under investigation which may impact treatment in the future.
This 60-minute CME program, hosted by Irina Murakhovskaya, MD, of the Montefiore Medical Center, Albert Einstein College of Medicine, in New York, NY and Bruno Fattizzo, MD, of the University of Milan and Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, in Milan, Italy, describes current best practices to manage patients with wAIHA.
Supported by an educational grant from Janssen Biotech.
For complete activity information and to obtain CME credit, please, go to www.checkrare.com
This 30-minute CME program highlights the latest clinical research about Fabry disease, is a rare X-linked lysosomal disorder that results in the cellular buildup of globotriaosylceramide.
Characteristic features of Fabry disease include acroparesthesias, angiokeratomas, hypohidrosis, corneal opacity, gastrointestinal problems, tinnitus, and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke.
This CME program, hosted by Staci Kallish, DO, Associate Professor of Clinical Medicine at the University of Pennsylvania Health System Penn Medicine, provides an overview of the latest clinical research presented at WORLDSymposium 2023 focused on Fabry disease.
Supported by educational grants from Amicus Therapeutics and Chiesi USA.
To watch the video and obtain CME credit, go to https://checkrare.com/learning-center/courses/
Lisa Borland, Vice President of Global Medical Affairs at Sarepta Therapeutics, discusses the clinical development program evaluating the safety and efficacy of SRP-9001, an investigational gene transfer therapy for Duchenne muscular dystrophy. Data from this program supported the U.S. Food and Drug Administration’s decision to accept and file a Biologics License Applications (BLA) for SRP-9001, which has a regulatory action date of May 29, 2023.
Duchenne muscular dystrophy is the most common and most severe form of muscular dystrophy. It is caused by mutations in the DMD gene that lead to loss of dystrophin and progressive muscle loss. Symptoms of muscle loss most often appear between the ages of 3 to 5 years, and most children with this disease will be wheelchair dependent by their early teens.
This 15-minute CME program highlights the latest clinical research about Growth Hormone Deficiency (GHD) and is hosted by a leading expert in GHD, Paul Saenger, of the Albert Einstein College of Medicine.
GHD is a rare endocrine disorder characterized by insufficient levels of growth hormone being secreted from the anterior pituitary gland. A hallmark of prolonged GHD is growth retardation or deceleration, as well as short stature. Additionally, growth hormone deficiency is associated with metabolic abnormalities, impaired cardiovascular function, fatigue, delayed or incomplete puberty, osteoporosis, and reduced muscle strength. Given the varied clinical profile of these patients, GHD should be managed by a multidisciplinary team lead by a pediatric or adult endocrinologist. There are numerous treatment options and options in development for persons with GHD and it is imperative clinicians who manage these patients stay up-to-date on the latest clinical research.
Sean J. Pittock, MD, Director of Mayo Clinic's Center for Multiple Sclerosis and Autoimmune Neurology and of Mayo's Neuroimmunology Laboratory discusses the latest results from Phase III CHAMPION-NMOSD trial recently presented at European Committee for Treatment and Research in Multiple Sclerosis (ECTRIMS) Congress. The results showed that treatment with ravulizumab-cwvz significantly reduced relapse risk in adults with anti-aquaporin-4 (AQP4) antibody-positive (Ab+) neuromyelitis optica spectrum disorder (NMOSD).
NMOSD is a rare central nervous disorder that primarily affects the spinal cord and optic nerves. Symptoms of NMOSD may include blindness in one or both eyes, weakness or paralysis of arms or legs, spasming, loss of sensation, uncontrollable vomiting and hiccups, and bladder/bowel problems due to spinal cord damage. Relapse is very common in persons with NMOSD and episodes can be severe enough to cause permanent disability.
Steven Pipe, MD, Professor of Pediatrics and Pathology, and Pediatric Medical Director of the Hemophilia and Coagulation Disorders Program at the University of Michigan, discusses the recent announcement of efanesoctocogg alfa being given breakthrough and priority review status by the U.S. Food and Drug Administration (FDA). Efanesoctocog alfa is a recombinant factor VIII therapy in development to treat people with hemophilia A.
Hemophilia A is a rare bleeding disorder due to a lack of factor VIII. Hemophilia A occurs mostly in males. People with hemophilia A can experience bleeding episodes that can cause pain, irreversible joint damage and life-threatening hemorrhages. Factor replacement therapy remains a cornerstone of care and can be used across multiple treatment scenarios.
Gerald Vockley, MD, PhD, Head of the Division of Medical Genetics at UPMC Children’s Hospital of Pittsburgh, provides a brief history on newborn screening.
Newborn screening began with phenylketonuria (PKU). In the 1960s, Dr. Robert Guthrie showed the value of developing a NBS program to screen for PKU since it was a genetic disease that can lead to permanent damage to the body if not treated early. Since babies with PKU appear normal at birth, NBS is important to establish a proper treatment/diet plan as soon as possible.
Angela Scheuerle, MD, Medical Geneticist at the UT Southwestern Medical Center, discusses National Organization for Rare Disorders’ (NORD) Rare Disease Centers of Excellence of which UT Southwestern is one.
There are currently 31 NORD Rare Disease Centers of Excellence across the United States. The primary goal for establishing this network was to advance care and expand access for rare disease patients. The second goal was to enable rare disease experts to work collaboratively, which will hopefully lead to faster progress in terms of diagnoses, treatments, and development of guidelines and new therapies.
Eric LeFebvre, MD, Chief Medical Officer at Pliant Therapeutics, discusses positive safety and efficacy data from the phase 2a INTEGRIS-IPF clinical trial of PLN-74809 in patients with idiopathic pulmonary fibrosis (IPF).
IPF is a chronic, progressive, fibrosing lung disease with few treatment options and a poor prognosis. Common symptoms of IPF include shortness of breath and difficulty performing daily activities, such as walking and talking. Currently, there is no pharmacological cure for IPF with neither of the approved two therapies demonstrating an ability to stop the progression of the disease.
Kirk Lamoreaux, Senior Healthcare Strategist, discusses ‘The Power of Being Counted,’ a report that was recently announced an estimated 10,867 rare diseases are known.
As Mr. Lamoreaux explains, ‘The Power of Being Counted’ was developed by RARE-X to determine a more accurate count of the actual number of rare diseases. Determining this number is difficult, largely due to the lack of a global definition for rare disease. Getting an accurate count is important in order to represent the full spectrum of the rare disease community and describe the true socioeconomic impact on the lives of patients, families, and society.
This CME program, hosted by Richard Auchus, MD, PhD Professor at the University of Michigan, provides an overview of the latest clinical research presented at the Endocrine Society Annual Meeting that involved Cushing’s disease and Cushing’s syndrome.
Educational Support for this activity was provided by Xeris Pharmaceuticals, Inc and Recordati Rare Diseases, Inc.
To receive credit for this activity, please visit https://checkrare.com/learning-center/courses/
Ajay K. Nooka, MD, Associate Professor of Hematology and Medical Oncology at Emory School of Medicine, discusses the updated efficacy and safety results from the phase 1/2 MajesTEC-1 study evaluating teclistamab in patients with relapsed or refractory multiple myeloma.
Multiple myeloma is a rare blood cancer associated with uncontrolled growth of plasma cells. Abnormal plasma cells – also known as myeloma cells – interfere with the production of healthy blood cells in the bone marrow. Symptoms of multiple myeloma may include: bone pain (particularly in the chest and spine), frequent infections, weakness or numbness in the legs, fatigue, confusion, excessive thirst, and constipation. While the disease is treatable, relapses are common and some patients are refractory to first line, and subsequent, therapies.
This CME program highlights the latest clinical research about pulmonary arterial hypertension (PAH). PAH is a rare, progressive disorder characterized by high blood pressure in the pulmonary arteries.
Symptoms of PAH include shortness of breath (dyspnea) especially during exercise, chest pain, and fainting episodes. The progressive nature of this disease means that an individual may experience only mild symptoms at first, but will eventually require treatment and medical care to maintain a reasonable quality of life. There are numerous treatment options and options in development for persons with PAH and it is imperative clinicians who manage these patients stay up-to-date on the latest clinical research.
This CME program, hosted by Jean Elwing, MD, of the University of Cincinnati College of Medicine. It is supported by an educational grant from Merck.
To earn CME credit, go to https://checkrare.com/learning/p-pah-research-highlights-chest-2022/
Dr. Harrison Farber, a pulmonologist and director of the Pulmonary Embolism Response Team at Tufts Medical Center discusses a chronic rare disease that affects the circulatory system in the lungs and directly affects the ability of the lungs to function.
Pulmonary Arterial Hypertension, or PAH, is characterized by shortness of breath, dizziness, and chest pressure. Dr. Harrison Farber joins us to discuss the impact of COVID-19 on PAH patient care.
This CME/CE activity, hosted by Ozlem Goker-Alpan, MD, Co-founder and President Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and guest lecturer, Oral Alpan, MD, of Amerimmune in McLean, VA, provides an overview of our current understanding of the immune system in the pathophysiology and management of lysosomal disorders.
At the end of this activity, participants should be able to: * Describe how the immune system is involved in Lysosomal Storage Disorders. * Review the pathophysiology of immune response reactions. * Describe how to better manage patients with immune response reactions. * Describe the best clinical practices to monitor the patients with immune response reactions.
Educational Support for this activity was provided by Takeda, Sanofi, and Chiesi.
To obtain CME credit, please visit https://checkrare.com/learning-center/courses/
This 15-minute CME program highlights the latest clinical research about Growth Hormone Deficiency (GHD) and is hosted by a leading expert in GHD, Paul Saenger, of the Albert Einstein College of Medicine.
GHD is a rare endocrine disorder characterized by insufficient levels of growth hormone being secreted from the anterior pituitary gland. A hallmark of prolonged GHD is growth retardation or deceleration, as well as short stature. Additionally, growth hormone deficiency is associated with metabolic abnormalities, impaired cardiovascular function, fatigue, delayed or incomplete puberty, osteoporosis, and reduced muscle strength. Given the varied clinical profile of these patients, GHD should be managed by a multidisciplinary team lead by a pediatric or adult endocrinologist. There are numerous treatment options and options in development for persons with GHD and it is imperative clinicians who manage these patients stay up-to-date on the latest clinical research.
Supported by an educational grant from Novo Nordisk, Inc.
To receive CME credit for this program, visit https://checkrare.com/learning-center/courses/
Guillaume Canaud, MD, PhD, of the Paris Descartes University, explains why it is important to regularly measure objective outcomes in persons with PiK3CA-related overgrowth syndrome (PROS).
PROS is a group of rare congenital disorders that lead to the overgrowth of parts of the body. PROS is caused by gain of function mutations in the PIK3CA gene. Specific disorders under the umbrella of PROS include fibroadipose hyperplasia, hemihyperplasia multiple lipomatosis (HHML), CLOVES syndrome, macrodactyly, fibroadipose infiltrating lipomatosis, megalencephaly-capillary malformation (MCAP), and dysplastic megalencephaly (DMEG).
Sean J. Pittock, MD, Director of Mayo Clinic's Center for Multiple Sclerosis and Autoimmune Neurology and of Mayo's Neuroimmunology Laboratory discusses the latest results from Phase III CHAMPION-NMOSD trial recently presented at European Committee for Treatment and Research in Multiple Sclerosis (ECTRIMS) Congress. The results showed that treatment with ravulizumab-cwvz significantly reduced relapse risk in adults with anti-aquaporin-4 (AQP4) antibody-positive (Ab+) neuromyelitis optica spectrum disorder (NMOSD).
NMOSD is a rare central nervous disorder that primarily affects the spinal cord and optic nerves. Symptoms of NMOSD may include blindness in one or both eyes, weakness or paralysis of arms or legs, spasming, loss of sensation, uncontrollable vomiting and hiccups, and bladder/bowel problems due to spinal cord damage. Relapse is very common in persons with NMOSD and episodes can be severe enough to cause permanent disability.
As Dr. Pittock explains, the CHAMPION-NMOSD study is a global Phase III, open-label, multicenter trial evaluating the safety and efficacy of ravulizumab in adults with AQP4-Ab+ NMOSD (n-58). The data presented by Dr. Pittock at ECTRIMS showed that no relapses were observed in patients receiving ravulizumab, with a median treatment duration of 73 weeks. Further, 100% of patients receiving ravulizumab remained relapse-free at 48 weeks, compared to 63% of patients in the external placebo arm.
To learn more about NMOSD and other rare neurologic disorders, visit checkrare.com/ neurology/
Angela Scheuerle, MD, Medical Geneticist at the UT Southwestern Medical Center, discusses National Organization for Rare Disorders’ (NORD) Rare Disease Centers of Excellence of which UT Southwestern is one.
There are currently 31 NORD Rare Disease Centers of Excellence across the United States. The primary goal for establishing this network was to advance care and expand access for rare disease patients. The second goal was to enable rare disease experts to work collaboratively, which will hopefully lead to faster progress in terms of diagnoses, treatments, and development of guidelines and new therapies.
Many of the Centers of Excellence specialize in particular rare disease areas; for example, at UT Southwestern, they are best known for their work in lipid metabolism disorders and cholesterol diseases. Additionally, UT Southwestern can care for rare disease patients across the lifespan as they have rare disease programs for all ages and, for some rare diseases, have standardized programs to transition patients from youth- to adult-centered care.
This CME/CE activity, hosted by Ozlem Goker-Alpan, MD, Co-founder and President Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and Sonata Jodele, MD, Research Professor of Pediatrics at Cincinnati Children’s Hospital Medical Center, highlights the current trends in gene therapy for lysosomal storage diseases as well as some of the safety concerns with such therapy.
At the end of this activity, participants should be able to:
Describe the limitations and unmet needs of the current therapeutic landscape for lysosomal disorders
Review the gene transfer therapies for lysosomal disorders
Describe the best clinical practices to monitor the safety profile of gene therapy
Describe the best practices for gene therapies
Educational Support for this activity was provided by Takeda, Sanofi, and Chiesi.
To obtain CME credit, please visit https://checkrare.com/learning-center/courses/
This CME/CE activity, hosted by Ozlem Goker-Alpan, MD, Co-founder and President Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and Sonata Jodele, MD, Research Professor of Pediatrics at Cincinnati Children’s Hospital Medical Center, highlights the current trends in gene therapy for lysosomal storage diseases as well as some of the safety concerns with such therapy.
At the end of this activity, participants should be able to:
Describe the limitations and unmet needs of the current therapeutic landscape for lysosomal disorders:
- Review the gene transfer therapies for lysosomal disorders
- Describe the best clinical practices to monitor the safety profile of gene therapy
- Describe the best practices for gene therapies
Educational Support for this activity was provided by Takeda, Sanofi, and Chiesi.
To obtain CME credit, please visit https://checkrare.com/learning-center/courses/
This 30-minute CME program highlights new treatment options that are available for persons with Cushing’s disease.
Cushing’s disease is caused by an adrenocorticotropic hormone (ACTH)-secreting pituitary tumor. Optimal patient outcomes require an accurate diagnosis, proper selection of individualized treatment, and good management of the disease and its associated comorbidities.
The program features two experts, Maria Fleseriu, MD, Professor of Medicine and Neurological Surgery at Oregon Health and Science University and Beverly Biller, MD, Professor of Medicine at Harvard Medical School, who were actively involved in the recently published consensus on the diagnosis and management of Cushing’s diseases in Lancet Diabetes Endocrinology.
Supported by an educational grant from Xeris Pharmaceuticals, Inc.
To obtain credit, visit checkrare.com/learning-center/courses/
This 30-minute CME program highlights best practices to diagnose Cushing’s disease and to manage the comorbidities commonly observed in persons with this rare disorder.
Cushing’s disease is caused by an adrenocorticotropic hormone (ACTH)-secreting pituitary tumor. Optimal patient outcomes require an accurate diagnosis, proper selection of individualized treatment, and good management of the disease and its associated comorbidities.
The program features two experts, Beverly Biller, MD, Professor of Medicine at Harvard Medical School and Maria Fleseriu, MD, Professor of Medicine and Neurological Surgery at Oregon Health and Science University, who were actively involved in the recently published consensus on the diagnosis and management of Cushing’s diseases in Lancet Diabetes Endocrinology.
Supported by an educational grant from Xeris Pharmaceuticals, Inc.
To obtain credit, visit checkrare.com/learning-center/courses/
This CME/CE activity, hosted by Ozlem Goker-Alpan, MD, Co-founder and President
Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and Neal J Weinreb, MD, FACP, Voluntary Associate Professor of Human Genetics, University of Miami Miller School of Medicine, highlights how enzyme replacement therapies (ERTs) and substrate reduction therapies (SRTs) for lysosomal storage disorders have transformed, and will continue to transform, the treatment landscape for these rare conditions.
At the end of this activity, participants should be able to:
• Describe how ERTs/SRTs have transformed the LSD population
• Describe the new research underway to improve safety and efficacy of ERTs/SRTs
• Describe how ERTs/SRTs are addressing the problem of the blood brain barrier
Educational Support for this activity was provided by Takeda, Sanofi, and Cheisi.
To obtain CME credit, please visit https://checkrare.com/learning-center/courses/
Barry S. Ticho, MD, PhD, Chief Medical Officer at Stoke Therapeutics, gives a detailed overview of Dravet syndrome.
As Dr. Ticho explains, Dravet syndrome is a rare neurological condition that usually appears during the first year of life as frequent febrile seizures. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. Moderate to severe cognitive impairment is also common. Most cases of Dravet syndrome occur due to a mutation of the SCN1A gene. The SCN1A gene codes for the protein NaV1.1. With only one functional SCN1A gene, people with Dravet syndrome produce less of the NaV1.1 protein. NaV1.1 is an important protein for the nerves in the brain to work properly. Low levels of NaV1.1 in the brain can lead to seizures and other symptoms of Dravet syndrome.
Larry J Bauer, Senior Regulatory Drug Expert from Hyman, Phelps, & McNamara PC, a dedicated food and drug law firm, discusses the history and purposes of patient-focused drug development (PFDD) meetings.
As Mr. Bauer explains, PFDD meetings are designed to engage patients and learn their perspectives on the most significant symptoms of their condition and the impact of the condition on daily life, as well as their current approaches to treatment.
Michael L. Wang, MD, Professor, Department of Lymphoma & Myeloma at the University of Texas MD Anderson Cancer Center, discusses results of the phase 3 SHINE study which evaluated the safety and efficacy of ibrutinib in combination with bendamustine and rituximab in patients 65 years of age or older with newly diagnosed mantle cell lymphoma. These data were recently presented at the American Society of Clinical Oncology (ASCO) 2022 Annual Meeting and were published in The New England Journal of Medicine.
Mantle cell lymphoma is a rare form of non-Hodgkin’s lymphoma in which B-cells become cancerous and form tumors in the lymph nodes that can quickly spread to other regions. It commonly affects people over the age of 65 who typically cannot tolerate intensive chemoimmunotherapy and stem cell transplantation, resulting in poor clinical outcomes.
As Dr. Wang explains, the SHINE study enrolled 523 patients 65 years of age or older with newly diagnosed mantle cell lymphoma. All participants were randomly assigned to receive 560 mg ibrutinib QD or placebo in combination with bendamustine and rituximab for a maximum of six 28-day cycles. Participants with a complete response or partial response continued to receive maintenance therapy with rituximab every second cycle for a maximum of 12 additional doses. Ibrutinib or placebo was administered daily until progressive disease or unacceptable toxicity.
Axel Bolte, MSc, MBA, Co-Founder, President, and Chief Executive Officer, Inozyme Pharmaceuticals, gives an overview of ENPP1 deficiency.
The ENPP1 gene produces a critical enzyme called ectonucleotide pyrophosphatase/ phosphodiesterase 1 (ENPP1), which regulates inorganic pyrophosphate (PPi) levels in plasma. PPi is essential for preventing harmful soft tissue calcification and for regulating normal bone mineralization. Individuals who present in utero or in infancy are typically diagnosed with generalized arterial calcification of infancy (GACI), which is characterized by extensive vascular calcification and neointimal proliferation, resulting in myocardial infarction, stroke, or cardiac or multiorgan failure.
Approximately 45% to 50% of infants with ENPP1 deficiency die within six months of birth. Children and adults with ENPP1 deficiency typically experience rickets and osteomalacia, a condition also known as autosomal-recessive hypophosphatemic rickets type 2 (ARHR2). These patients can also exhibit a range of signs and symptoms that include hearing loss, arterial calcification, and cardiac and/or neurological involvement. There are currently no approved therapies for ENPP1 deficiency. Recently, however, Inozyme announced positive preliminary biomarker, safety, and pharmacokinetic data from the first 3 patients treated in the phase 1 portion of its ongoing phase 1/2 clinical trial of INZ-701 in adult patients with ENPP1 deficiency.
This accredited CME activity, led by Satheesh Chonat, MD, Assistant Professor at Emory University School of Medicine and hematologist-oncologist at the Pediatric Hematology Aflac Cancer and Blood Disorders Center, Children’s Healthcare of Atlanta, highlights the latest real world data focused on paroxysmal nocturnal hemoglobinuria (PNH). Dr Chonat also provides expert analysis of the data’s clinical relevance for members of the care team to help them manage patients with PNH they may encounter with this rare condition. PNH is a rare, acquired blood disease characterized by hemolytic anemia, bone marrow failure, thrombosis, and fatigue.
Supported by an educational grant from Alexion Pharmaceuticals, Inc.
For complete activity information and to obtain CME credit, please go to https://checkrare.com/learning-center/courses/
Giacomo Chiesi, MBA, Head of Chiesi Global Rare Diseases, discusses a white paper titled, "The Burden of Rare Diseases: An Economic Evaluation," based on the results of a study which demonstrate that rare diseases impose substantial economic burden which can be reduced with availability of approved treatments.
As Mr. Chiesi explains, the goals of the study were to qualify the macroeconomic societal costs of rare diseases, and whether this cost is affected by a rare disease having an available treatment.
The results of the study indicate that for the 24 rare diseases selected, the total cost to society was approximately $125 billion with average overall economic burden PPPY of $266,000, which is approximately 10x the cost associated with mass market diseases ($26,000 PPPY). Overall, burden was generally driven by direct and mortality costs. The results also demonstrate that, when a treatment is approved for a rare disease, average overall economic burden PPPY decreases by 21.2% ($42 thousand), even when treatment cost is included.
Ozlem Goker-Alpan, MD, Founder and Chief Medical Officer at Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and discusses the latest develops in biomarker research and how biomarkers can improve how patients with lysosomal disorders, such as Gaucher disease and Fabry disease, are managed.
To obtain CME/CE credit for this program, go to www.checkrare.com
Support for this educational activity was provided by Takeda, Sanofi and Chiesi.
This accredited CME activity, led by Paula Busse, MD, Associate Professor of Medicine at the Icahn School of Medicine at Mount Sinai, provides a summary of the latest information about hereditary angioedema (HAE) that was presented at the American Academy of Allergy, Asthma, & immunology 2022 (2022 AAAAI) Annual Meeting. Since to the Covid-19 pandemic limited the ability for AAAAI members to commit fully to the 4-day event, this program provides a concise means to share the clinically relevant information presented at this meeting with AAAAI members as well as other health care professionals who manage individuals with HAE.
HAE is a rare genetic disease that results in immunologic attacks that can be life threatening.
Supported by an educational grant from CSL Behring.
For complete activity information and to obtain CME credit, please go to https://checkrare.com/learning-center/courses/
Raymond Wang, MD, Metabolic Specialist and Director of the Multidisciplinary Lysosomal Storage Disorder Program at Children's Hospital of Orange County, provides an extensive overview of mucopolysaccharidosis type I (MPS I), also known as Hurler syndrome. In this interview, Dr. Wang explains this rare condition, including its pathophysiology, prevalence, and natural progression. He also discusses the current treatment options for MPS I as well as the work he is doing to assess the safety and efficacy of gene therapy (RGX-111) for this rare disease.
MPS I is an inherited lysosomal storage disorder caused by a deficiency in the enzyme, alpha-L-iduronidase, which is responsible for breaking down glycosaminoglycans (GAGs). In moderate to severe forms of the disease, the accumulation of GAGs in the central nervous system leads to hydrocephalus, spinal cord compression, and cognitive impairment. Additional symptoms may include clouded corneas; enlarged liver, spleen, and heart; noisy breathing; recurring upper respiratory tract; ear infections; difficulty swallowing; and periodic bowel problems.
Steve Pakola, MD, Chief Medical Officer for Regenxbio, discusses data from the ongoing gene therapy trials in children with mucopolysaccharidosis type I (MPS I) and mucopolysaccharidosis type II (MPS II). The data was presented at WORLDSymposium 2022.
MPS I is an inherited lysosomal storage disorder caused by a deficiency in the enzyme, alpha-L-iduronidase, which is responsible for breaking down glycosaminoglycans (GAGs). These GAGs accumulate in the tissues of MPS I patients, resulting in a diverse clinical profile. In moderate to severe forms of the disease, this accumulation in the central nervous system leads to hydrocephalus, spinal cord compression, and cognitive impairment. Additional symptoms may include clouded corneas; enlarged liver, spleen, and heart; noisy breathing; recurring upper respiratory tract; ear infections; difficulty swallowing; and periodic bowel problems.
MPS II is a rare, progressive lysosomal disease caused by deficient activity of iduronate-2-sulfatase, attributable to pathogenic variants of the iduronate-2-sulfatase gene (IDS). This disease has a variable clinical presentation but common signs and symptoms include: developmental decline between 18 and 36 months, followed by progressive loss of skills; coarse facial features; skeletal irregularities; obstructive airway and respiratory complications; joint stiffness; retinal degeneration; and communicating hydrocephalus.
Currently, the main treatment option for both MPS I and MPS II is enzyme replacement therapy (ERT). Unfortunately, intravenous iduronidase (for MPS I) and idursulfase (for MPS II) cannot pass the blood-brain barrier which makes it ineffective in treating neurological symptoms associated with severe forms of these lysosomal storage disorders.
As Dr. Pakola explains, RGX-111 and RGX-121 are both recombinant adeno-associated virus serotype 9 capsids containing the gene that encodes the alpha-L-iduronidase and iduronate-2-sulfatase enzyme, respectively. When administered to the central nervous system both investigational gene therapies may prevent the progression of cognitive deficits that otherwise occurs in MPS I and MPS II patients.
Juan Roman, Vice President at Krystal Biotech, gives an overview of dystrophic epidermolysis bullosa (DEB).
As Mr. Roman explains, DEB is one of the major forms of epidermolysis bullosa, a group of genetic skin diseases that cause the skin to blister and erode very easily. The signs and symptoms of DEB vary widely among affected people. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases often involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. DEB is caused by mutations in the COL7A1 gene and may be inherited in an autosomal dominant or autosomal recessive manner depending on the subtype. Some patients need nutritional support, supplements, occupational therapy and/or surgery depending on the associated features of the disease.
Currently, there are no approved targeted treatments for DEB, but Krystal Biotech announced positive topline results in November 2021 from the phase 3 GEM-3 study using redosable gene therapy, beremagene geperpavec (Vyjuvek), in DEB patients.
Edward Neilan, MD, PhD, Chief Scientific and Medical Officer at the National Organization for Rare Disorders (NORD), discusses the organization’s recently established Rare Disease Centers of Excellence.
As Dr. Neilan explains, there were two main goals when establishing a national network of rare disease centers. The first goal was to help rare disease patients find medical centers that have deep and broad expertise and could assist them with their diagnosis or treatment of their disease. The second goal was to enable rare disease experts to work collaboratively, which will hopefully lead to faster progress in terms of diagnoses, treatments, and development of guidelines and new therapies.
The application process for the NORD Rare Disease Centers of Excellence was extensive to ensure that each center, among other things, had extensive expertise. Some additional criteria for the selection of these centers included being actively involved in rare disease research, actively training the “next generation” of rare disease clinicians and researchers, and being able to provide care for all ages and assist with the transition for pediatric to adult care. NORD also evaluated if centers were providing education about rare diseases to the public and reaching out to underserved minorities.
Dr. Neilan hopes that by establishing this network of centers, it will increase the sharing of information between physicians, which will in turn decrease the need for patients to travel across the country to receive proper care for their rare disease.
Steven Pipe, MD, Professor of Pediatrics and Pathology, and Pediatric Medical Director of the Hemophilia and Coagulation Disorders Program at the University of Michigan, discusses the recent announcement of positive long-term results from the phase 3 HOPE-B clinical trial evaluating etranacogene dezaparvovec (EtranaDez), an investigational gene therapy for hemophilia B.
Hemophilia B is a congenital bleeding disorder due to dysfunction or deficiency of coagulation Factor IX (FIX). People with this condition may bleed for longer periods of time after injury or surgery. They are also susceptible to spontaneous bleeding in muscles, joints and organs, which can be extremely painful and, in some cases, life-threatening.
Etranacogene dezaparvovec is an investigational adeno-associated virus five (AAV5)-based gene therapy for people living with hemophilia B.
The final data from the HOPE-B trial were recently announced and demonstrated that etranacogene dezaparvovec produced mean FIX activity of 39.0 IU/dL at six months and 36.9 IU/dL at 18 months post infusion. For context, patients with severe hemophilia B often have less than 1.0 IU/dL and greater than 10.0 IU/dL is thought to be necessary for an absence of joint bleeding.
Jeffrey L. Neul, MD, PhD, Professor of Pediatrics, Division of Neurology, Pharmacology, and Special Education at Vanderbilt University Medical Center, gives an overview of Rett syndrome.
As Dr. Neul explains, Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental “plateau,” and then rapid regression in language and motor skills. Common symptoms include hand-wringing; fits of screaming and inconsolable crying; autistic features; panic-like attacks; bruxism; episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth.
Rett syndrome is most commonly caused by a sporadic mutation in the MECP2 gene on the X chromosome. The majority of cases are not inherited from a parent. Treatment mainly focuses on reducing specific symptoms of the condition as there is currently no approved treatment or cure for Rett syndrome. However, recently, positive top-line results from a phase 3 study (NCT04181723) of investigational trofinetide for Rett syndrome were announced.
For more information about Rett syndrome and other rare neurological disorders, visit checkrare.com/diseases/neurology
Raymond Wang, MD, Metabolic Specialist and Director of the Multidisciplinary Lysosomal Storage Disorder Program at Children's Hospital of Orange County, discusses RGX-111, an investigational gene therapy for mucopolysaccharidosis type I (MPS I). Data from this study was recently presented at WORLDSymposium 2022.
MPS I is an inherited lysosomal storage disorder caused by a deficiency in the enzyme, alpha-L-iduronidase, which is responsible for breaking down glycosaminoglycans (GAGs). In moderate to severe forms of the disease, the accumulation of GAGs in the central nervous system leads to glycosaminoglycans, spinal cord compression, and cognitive impairment.
RGX-111 is a recombinant adeno-associated virus serotype 9 capsid containing a human IDUA expression cassette (AAV9.CB7.hIDUA). When administered to the central nervous system (CNS), RGX-111 may provide a permanent CNS source of secreted alpha-L-iduronidase, potentially preventing the progression of cognitive deficits that otherwise occurs in MPS I patients. In this phase 1/2, first-in-human, multicenter, open-label, dose escalation trial, participants CNS involvement or severe MPS I, four months of age or older, received one image-guided RGX-111 injection to the CNS with 104 week follow-up for safety, tolerability, and efficacy. Assessments include cerebrospinal fluid, plasma, and urine biomarkers; cognitive, language, and motor neurodevelopmental scales; and imaging. Two subjects have been dosed at Dose 1 (1.0 x 1010 genome copies/g brain mass) and 3 subjects have currently been dosed at Dose 2 (5.0 x 1010 genome copies/g brain mass). Enrollment for Dose 2 continues.
James Howard Jr., MD, Distinguished Professor of Neuromuscular Disease and Professor of Neurology and Medicine at UNC School of Medicine, reviews the treatment landscape for myasthenia gravis.
Myasthenia gravis is a chronic autoimmune neuromuscular disease characterized by weakness of the skeletal muscles. Common symptoms include weakness of the muscles that control the eyes, eyelids, facial expressions, chewing, talking, and swallowing. The condition is usually due to the presence of antibodies against acetylcholine receptors in the neuromuscular junction.
As Dr. Howard explains, due to the variety of ways this rare disease can present, treatment of myasthenia gravis is individualized to each patient based on their specific symptoms and unique comorbidities. In addition, the financial situation of each patient is taken into account.
Acetylcholinesterase inhibitors are often used as bridge therapies. Corticosteroids are also common bridge therapies in younger patients, while steroid sparing agents are more common in older patients or in patients with contraindications to steroids. In patients under the age of 60 with generalized disease and who are anti-acetylcholine receptor (AChR) antibody positive, the removal of the thymus gland is common.
Dr. Howard goes on to discuss approved treatments for myasthenia gravis. In 2017, eculizumab, a complement inhibitor, was approved by the U.S. Food and Drug Administration (FDA) for the treatment of generalized myasthenia gravis in adult patients who are anti-acetylcholine receptor (AChR) antibody positive.
More recently, in December 2021, the FDA approved efgartigimod alfa, an FcRn inhibitor, for the treatment of this same patient population. This approval was based on positive results from the global phase 3 ADAPT trial, which were published in the July 2021 issue of The Lancet Neurology. While Dr. Howard stresses the need for individualized treatment for all myasthenia gravis patients, he is optimistic about the future of FcRn inhibitors in the treatment of myasthenia gravis.
A group of leading experts in metabolic disorders, advocates, and family representatives attended a virtual conference to discuss Type 1 galactosemia.
This roundtable discussion features perspectives from advocates, experts, and families living with Type 1 galactosemia. Galactosemia is a rare genetic disease that can be life-threatening for newborns and cause severe lifelong complications starting as early as the first year of life. Galactosemia affects the body’s ability to make the enzyme that breaks down galactose, a simple sugar produced endogenously by the body that is also found in dairy and other foods, including breast milk. The genetic mutations driving galactosemia cause a toxic buildup of galactose and other metabolites (including Gal-1p and galactitol), which constitutes a medical emergency in newborns and can contribute to lifelong cognitive, neurological, and speech complications, as well as primary ovarian insufficiency in girls and women.
No treatments are currently approved for galactosemia. The current standard of care—a galactose-restricted diet—is insufficient because the body endogenously produces galactose, resulting in the chronic complications mentioned above.
Hosted by the Galactosemia Foundation and Jaguar Gene Therapy, participants included:
- Nicole Casale, President, The Galactosemia Foundation
- Brittany Cudzilo, Vice President, The Galactosemia Foundation
- Gerald T. Berry, MD, Director, Metabolism Program Boston Children’s Hospital and Professor, Harvard Medical School
- Judith L. Fridovich-Keil, PhD, Professor, Emory University School of Medicine
Family Stories by Allison and Brooks Woodfin, Megan and Ava Lilia, and David and DJ Trainor
- May Tobar, Director Patient Advocacy, Jaguar Gene Therapy
- Joe Nolan, CEO, Jaguar Gene Therapy
Nicole Casale and Brittany Cudzilo of the Galactosemia Foundation described the Foundation and its goals, and their experiences with their own children affected by classic galactosemia.
Galactosemia experts Gerard Berry, MD, of Boston Children’s Hospital and Judith Fridovich-Keil, PhD, of Emory University School of Medicine, provided an overview of Type 1 Galactosemia and described the natural history of the disorder and its unmet needs.
The Director of Patient Advocacy at Jaguar Gene Therapy, May Tobar, shared the importance of patient advocacy and why it is important to work closely with the patient community.
Parents of two young patients with Type 1 galactosemia told stories of their children’s diagnoses, and their own experience with classic galactosemia. A 28-year-old patient with classic galactosemia offered his thoughts on living with the disorder and how he meets those challenges every day. His father provided additional perspectives.
The CEO of Jaguar Gene Therapeutics, Joe Nolan, closed the session by thanking all of the participants, including the Galactosemia Foundation, the experts, and the families who shared their personal stories. He also shared a little bit about Jaguar Gene Therapy and the treatment in development for Type 1 galactosemia, JAG101.
This accredited CME activity, led by Barbara Burton, MD, Professor of Pediatrics at Northwestern University Feinberg School of Medicine highlights the latest research about Mucopolysaccharidosis type II (MPS II; Hunter syndrome) presented at WORLDSymposium 2022 and provides expert analysis of its clinical relevance for busy members of the care team to help them care for patients they may encounter with this rare condition.
MPS II; Hunter syndrome is a rare, progressive lysosomal disease caused by deficient activity of iduronate-2-sulfatase, attributable to pathogenic variants of the iduronate-2-sulfatase gene (IDS). Course facial features and skeletal irregularities are the dominant symptoms of the periphery but of great concern is the central symptoms (cognitive decline, seizures) that occur in the more severe cases. Current therapies options include enzyme replace therapy but newer treatment options are in development, including treatments that may address the central symptoms. Supported by an educational grant from Takeda Pharmaceuticals U.S.A. Inc.
For complete activity information and to obtain CME credit, please go to https://checkrare.com/learning-center/courses/
This accredited CME activity, led by Gregory Grabowski, MD, Professor Emeritus at University of Cincinnati College of Medicine highlights the latest research about Gaucher disease presented at WORLDSymposium 2022 provides expert analysis of its clinical relevance for busy members of the care team to help them care for patients they may encounter with this rare condition.
Gaucher disease is a genetic lysosomal storage disorder in which glucocerebroside accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen. Current therapies options include enzyme replace therapy or substrate reduction therapy but newer treatment options are in development. Furthermore, there is a genetic link between Gaucher disease and Parkinson’s disease that is currently being investigated.
Supported by an educational grant from Takeda Pharmaceuticals U.S.A. Inc.
To obtain CME credit, please go to https://checkrare.com/learning-center/courses/
A group of leading experts in pediatric neurology and movement disorders attended a virtual roundtable to discuss diagnostic, symptomatic, and research aspects of aromatic L-amino acid decarboxylase (AADC) deficiency.
AADC deficiency is characterized by a defect in the dopa decarboxylase or DDC gene; this dysfunction leads to reduced production of the critical neurotransmitters dopamine, norepinephrine, epinephrine, and melatonin. As a result, patients with AADC deficiency can suffer deficits in vital motor function.
The symptoms of this very rare genetic disorder usually appear before children reach one year of age. Patients with severe symptoms rarely survive beyond age 10. Although patients with moderate symptoms can live into adulthood, those afflicted with AADC deficiency often experience developmental disability and can require lifelong care. The participants included:
Philip L. Pearl, MD
Director, Epilepsy and Clinical Neurophysiology, Boston Children’s Hospital
William G. Lennox Chair and Professor of Neurology, Harvard Medical School
Boston, MA
Warren A. Marks, MD
Medical Director, Movement Disorders
Cook Children’s Jane and John Justin Neurosciences Center
Fort Worth, TX
Paul Wuh-Liang Hwu, MD, PhD
Professor, Department of Pediatrics and Medical Genetics
National Taiwan University Hospital
Tapei, Taiwan
Irina A. Anselm, MD
Director of the Mitochondrial Program and Co-Director of the Neurometabolic Program, Boston Children’s Hospital
Assistant Professor of Neurology, Harvard Medical School
Boston, MA
Jennifer O’Malley, MD, PhD
Clinical Assistant Professor, Neurology & Neurological Sciences, Stanford Medicine
Pediatric Neurologist, Stanford Children’s Health
Stanford, CA
Moderated by Dr. Pearl, the roundtable participants described the first recognized case of AADC deficiency, and the fact that the prevalence and incidence of the condition is not yet clear. One problem is that the presentation of infants with AADC deficiency is not very specific, and a large number of patients are probably not yet diagnosed, said Dr. O’Malley. Unexplained hypotonia is a useful sign, she explained, which clinicians can use to go down the path to diagnosis. Dr. Marks commented that when children present with movement disorders at his center, he has a very low threshold to begin genetic testing for AADC deficiency, which will rapidly eliminate or confirm the diagnosis. Dr. Hwu emphasized that clinical recognition is the first step: Once you make one diagnosis, it isn’t too difficult to identify the second patient.
Symptomatic treatment can be useful, particularly in patients with milder forms of AADC deficiency, said Dr. Anselm. For example, similar to Parkinsonism, dopamine agonists can have positive results, but dyskinesias are problematic.
Gene therapy holds promise, according to Dr. Hwu, but he cautioned that even if successful, a good deal of movement training and patience will be required to gain movement control.
Drs. O’Malley and Anselm believe that collaboration and education among the different disciplines (e.g., child neurologists and physiatrists) is key to improving recognition of AADC deficiency and gaining early treatment.
This accredited CME activity, led by Carlos De Castro, MD, Professor of Medicine, Duke Hematologic Malignancies Clinic, highlights the latest information about paroxysmal nocturnal hemoglobinuria (PNH) presented at ASH 2021 and provides expert analysis of its clinical relevance for busy members of the care team in order to help them care for patients they may encounter with this rare condition.
PNH is a rare, acquired blood disease characterized by hemolytic anemia, bone marrow failure, thrombosis, and fatigue.
Supported by an educational grant from Apellis.
To obtain CME credit, please go to https://checkrare.com/learning-center/courses/
Karuppiah Kannan, Senior Director - Global Program Leader at Takeda Pharmaceuticals, discusses early results of a phase 1/2 study evaluating subasumstat (TAK-981) in combination with rituximab in multiple subsets of CD20-positive relapsed/refractory non-Hodgkin lymphoma including diffuse large B-cell lymphoma (DLBCL), mantle cell lymphoma (MCL), follicular lymphoma (FL) and marginal zone lymphoma (MZL). The results of this study were recently presented at The American Society of Hematology Meeting & Exposition (ASH 2021).
Subasumstat is an investigational, first-in-class small-molecule inhibitor of SUMOylation, which mediates cell cycle progression. In preclinical trials, subasumstat was shown to add synergistic benefit when combined with rituximab in non-Hodgkin lymphoma models.
Jerry Vockley, MD, PhD, Head of the Division of Medical Genetics at UPMC Children’s Hospital of Pittsburgh, gives an update on the phase 2 trial testing SYNB1618 to treat phenylketonuria (PKU).
PKU is a rare genetic metabolic disorder that results in reduced activity of phenylalanine hydroxylase that leads to an accumulation of phenylalanine in the body, which can cause significant organ damage, especially in the central nervous system. If left untreated, PKU patients can develop chronic intellectual, neurodevelopmental, and psychiatric disabilities, as well as seizures and heart problems. Lifelong restriction of phenylalanine intake through the diet is needed to prevent buildup of phenylalanine in the body. However, compliance is an issue with this type of diet.
Interim data from the phase 2 SynPheny-1 clinical trial was recently presented at the International Congress of Inborn Errors of Metabolism (ICIEM) Meeting. These data show that treatment with SYNB1618, an investigational oral drug, resulted in significant reductions in plasma phenylalanine levels in patients with PKU.
In an interim analysis of eight patients, treatment with SYNB1618 was associated with a 40% reduction in D5-phenylalanine absorption after a meal challenge. Treatment with SYNB1618 was also associated with a 20% reduction in mean fasting plasma phenylalanine across all subjects.
According to Dr. Vockley, because patients tend to “behave themselves” when they know they will have their phenylalanine levels measured by a professional, patients in the study may have had lower-than-average plasma phenylalanine at baseline. Ultimately, this means that the 20% reduction seen in the interim analysis may be a smaller reduction than what would be seen in real-world settings and that treatment with SYNB1618 may actually lead to an even greater reduction in plasma phenylalanine. Finally, in the interim analysis, treatment with SYNB1618 was associated with >250 µM mean reduction in fasting plasma phenylalanine among responder subjects. Treatment with SYNB1618 was also generally well tolerated, with no serious adverse events and a tolerability profile consistent with results from previous Phase 1 studies.
To learn more about PKU and other rare metabolic disorders, visit checkrare.com/diseases/metabolic-disorders/
This accredited CME activity, led by David Kronn, MD, Associate Professor of Pathology and Pediatrics at New York Medical College, is the fourth module in a four-part curriculum focused on Best Practices for Explaining Newborn Screening Results to Parents. This module will focus on hemoglobinopathies and newer disorders which are part of the Recommended Uniform Screening Panel (RUSP) in order to better prepare clinicians to discuss positive results with new parents.
Supported by an educational grant from bluebird bio Inc. and Ultragenyx Pharmaceutical Inc.
To obtain CME credit, please go to https://checkrare.com/learning-center/courses/
This accredited CME activity, led by Jerry Vockley, MD, PhD, Chief of Genetic and Genomic Medicine at the University of Pittsburgh, is the third module in a four-part curriculum focused on Best Practices for Explaining Newborn Screening Results to Parents. This module will focus on metabolic diseases which are part of the Recommended Uniform Screening Panel (RUSP) in order to better prepare clinicians to discuss positive results with new parents.
Supported by an educational grant from bluebird bio Inc. and Ultragenyx Pharmaceutical Inc.
To obtain CME credit, please go to https://checkrare.com/learning-center/courses/
This accredited CME activity, led by David Kronn, MD, Associate Professor of Pathology and Pediatrics at New York Medical College, is the second module in a four-part curriculum focused on Best Practices for Explaining Newborn Screening Results to Parents. This module will focus on how to talk to parents about positive NBS results.
Supported by an educational grant from bluebird bio Inc. and Ultragenyx Pharmaceutical Inc.
To obtain CME credit, please go to https://checkrare.com/learning-center/courses/
This accredited CME activity, led by Jerry Vockley, MD, PhD, Chief of Genetic and Genomic Medicine at the University of Pittsburgh, is the first module in a four-part curriculum focused on Best Practices for Explaining Newborn Screening Results to Parents. This module will provide clinicians with the fundamentals of newborn screening.
Supported by an educational grant from bluebird bio Inc. and Ultragenyx Pharmaceutical Inc.
To obtain CME credit, please go to https://checkrare.com/learning-center/courses/
This accredited CME activity, led by Rachael Grace, MD, Associate Professor, Harvard Medical School, highlights the latest research about pyruvate kinase (PK) deficiency presented at ASH 2021 and provides expert analysis of its clinical relevance for busy members of the care team to help them care for patients they may encounter with this rare condition.
PK deficiency is a rare blood disease due to mutations in the PKLR gene that leads to decreased PK levels. Current therapies options are supportive (transfusions, iron chelation, splenectomy) but treatments are in development to better address the pathophysiology of this rare condition.
Supported by an educational grant from Agios Pharmaceuticals.
To obtain CME credit, please go to https://checkrare.com/learning-center/courses/
Jeffrey A. Zonder, MD, Hematologist-Oncologist from the Barbara Ann Karmanos Cancer Institute in Detroit, Michigan, describes the treatment landscape for patients with relapsed or refractory multiple myeloma.
Multiple myeloma is a rare blood cancer associated with uncontrolled growth of plasma cells. Abnormal plasma cells – also known as myeloma cells – interfere with the production of healthy blood cells in the bone marrow. Myeloma cells also produce inactive clones of abnormal antibodies that may negatively affect the bones and kidneys. Symptoms of multiple myeloma may include: bone pain (particularly in the chest and spine), frequent infections, weakness or numbness in the legs, fatigue, confusion, excessive thirst, and constipation. While the disease is treatable, relapses are common and some patients are refractory to first line therapy.
As Dr. Zonder explains, the treatment landscape for multiple myeloma is quickly developing and relatively promising compared to other cancer landscapes. However, these patients are still susceptible to relapse or becoming refractory to treatment. As such, there is a growing need for late line therapies for this patient population. CAR T-cell therapies have been investigated for relapsed or refractory multiple myeloma for a number of years. In March 2021, idecabtagene vicleucel (a CAR T-cell therapy) was approved by the U.S Food and Drug Administration for the treatment of patients with relapsed/refractory multiple myeloma who have received at least four prior lines of therapy. There are a few toxicity concerns associated with CAR T-cell therapies, the most notable of which is cytokine release syndrome, as well as accessibility issues. Bispecific antibody therapies are also being developed for multiple myeloma and have the potential to be a safe and effective alternative.
Dr. Zonder recently discussed data from the first-in-human study of REGN5458, a BCMA x CD3 bispecific antibody that is currently being investigated as a monotherapy for relapsed/refractory multiple myeloma patients (NCT03761108). Data from the phase 1 portion of this study were recently presented at The American Society of Hematology Meeting & Exposition (ASH 2021).
Phillip Moreau, MD, PhD, Head of the Hematology Department at the University Hospital Phillip Moreau, MD, PhD, Head of the Hematology Department at the University Hospital Hôtel-Dieu, discusses the updated results from MajesTEC-1, a phase 1/2 study of teclistamab in relapsed/refractory multiple myeloma. These results were recently presented at The American Society of Hematology Meeting & Exposition (ASH 2021).
Multiple myeloma is a rare blood cancer. While the disease is treatable, relapses are common and some patients are refractory to first line treatment.
As Dr. Moreau explains, MajesTEC-1 is a phase 1/2 study testing teclistamab in relapsed/refractory multiple myeloma. Teclistamab is a T-cell redirecting, bispecific IgG4 antibody that targets both B-cell maturation antigen (BCMA) and CD3 receptors to induce T-cell mediated cytotoxicity of BCMA-expressing myeloma cells. In this study, two cohorts were evaluated, one cohort given teclistamab weekly and one biweekly. Updated data on both of these cohorts was presented at the ASH 2021 meeting.
Response rates from both cohorts were encouraging with up to 75% of patients responding to treatment with teclistamab. As of the clinical cutoff, no new safety signals were identified in the phase 2 study. The most common nonhematologic AEs in all 159 patients treated at the recommended phase 2 dose were cytokine release syndrome, injection site erythema, and fatigue. The most common hematologic AEs were neutropenia, anemia, and thrombocytopenia.
According to Dr. Moreau, the take home message from this data is that teclistamab is a novel, tolerable, off-the-shelf agent that is immediately available. As a result, the use of teclistamab for advanced patients with BCMA may be approved fairly soon.
Longer follow-up of multiple myeloma patients receiving teclistamab is necessary.
Drs. Ozlem Goker-Alpan and Swati Sathe discuss how our growing awareness of the central symptoms and comorbidities associated with many lysosomal storage diseases is changing how we manage these rare diseases.
This CME/CE activity is possible through an educational grant from Takeda, Cheisi, Ultragenyx Pharmaceuticals, and Spark Therapeutics.
To obtain credit for this activity, please visit https://checkrare.com/learning-center/courses/
This accredited CME activity, led by Jonathan Bernstein, MD, Professor of Medicine at the University of Cincinnati, provides a summary of the latest information about hereditary angioedema (HAE) that was presented at the American College of Allergy, Asthma, & immunology 2021 Annual Scientific Meeting (ACAAI 2021). Since to the Covid-19 pandemic limited the ability for ACAAI members to commit fully to the 5-day event, this program provides a concise means to share the clinically relevant information presented at ACAAI 2021 with ACAAI members as well as other health care professionals who manage individuals with HAE.
HAE is a rare genetic disease that results in immunologic attacks that can be life threatening.
Supported by an educational grant from BioCryst.
To obtain CME credit, please go to https://checkrare.com/learning-center/courses/
Paolo Ghia, MD, PhD, Professor at the Università Vita-Salute San Raffaele, Milan, Italy, discusses the updated, long-term data from the phase 2 CAPTIVATE study. This study evaluated ibrutinib plus venetoclax as a first-line treatment for chronic lymphocytic leukemia (CLL); data from this trial was recently presented at the American Society of Hematology Meeting & Exposition (ASH 2021).
Jeffrey Neul, MD, PhD, Professor of Pediatrics at Vanderbilt University Medical Center, discusses recent top-line results from a phase 3 trial testing trofinetide to treat children with Rett syndrome.
Trofinetide is an analog of insulin-like growth factor 1 (IGF-1) and it is speculated that the orphan drug can restore homeostasis of neuronal signaling in diseases such as Rett syndrome.
Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental “plateau,” and then rapid regression in language and motor skills. Common symptoms include hand-wringing; fits of screaming and inconsolable crying; autistic features; panic-like attacks; bruxism; episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth. Rett syndrome is most commonly caused by a sporadic mutation in the MECP2 gene on the X chromosome. The majority of cases are not inherited from a parent.
Recently, positive top-line results from the Lavender study were announced. As Dr. Neul explains, the Lavender study (NCT04181723) is a phase 3 study evaluating the safety and efficacy of trofinetide in 187 Rett syndrome patients aged 5 to 20 years. Trofinetide met co-primary efficacy endpoints demonstrating statistically significant improvement over placebo in the Rett Syndrome Behaviour Questionnaire (RSBQ) and the Clinical Global Impression of Improvement (CGI-I). On the Rett Syndrome Behaviour Questionnaire (RSBQ), change from baseline to week 12 was -5.1 in the trofinetide arm vs. -1.7 in the placebo arm (P=.0175). The Clinical Global Impression–Improvement (CGI-I) score at week 12 was 3.5 vs. 3.8 (p=0.0030; effect size=0.47). The RSBQ is a caregiver assessment of the core symptoms of Rett syndrome and the CGI-I is a global physician assessment of worsening or improving Rett syndrome.
Additionally, trofinetide demonstrated a statistically significant separation over placebo on the key secondary endpoint, the Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist–Social composite score (CSBS-DP-IT–Social) change from baseline to week 12 was -0.1 vs. -1.1 (P=.0064).
According to Dr. Neul, next steps following these results include two open-label extension studies as well as for the sponsor to organize a New Drug Admission (NDA) to the U.S. Food and Drug Administration. This NDA package is expected to be submitted some time this year.
For more information about Rett syndrome and other rare neurological disorders, visit checkrare.com/diseases/neurology
Jeffrey A. Zonder, MD, hematologist-oncologist at the Barbara Ann Karmanos Cancer Institute in Detroit, Michigan, discusses data from the first-in-human study testing REGN5458 as a monotherapy for relapsed/refractory multiple myeloma patients (NCT03761108). Data from the phase 1 portion of this study were recently presented at The American Society of Hematology Meeting & Exposition (ASH 2021).
Multiple myeloma is a rare blood cancer associated with uncontrolled growth of plasma cells. While the disease is treatable, relapses are common and some patients are refractory to first line treatment.
As Dr. Zonder explains, REGN5458 is a BCMA x CD3 bispecific antibody that is currently being investigated in a phase 1/2 clinical trial. Data presented at ASH 2021 was related to the phase 1 portion of this study which is assessing the safety, tolerability, and dose-limiting toxicities (DLTs) of REGN5458 in patients with relapsed/refractory multiple myeloma as well as determining a recommended phase 2 dose regimen.
As of data cut-off (June 10, 2021), 68 patients were treated with REGN5458 in the dose escalation cohort with full doses ranging from 3–400 mg. Patients had a median of 5 prior lines of systemic therapy and the median duration of follow-up was 2.4 months.
Treatment-emergent adverse events (TEAE) were reported in 66 patients (97.1%), and Grade 3 or more TEAEs were reported in 52 (76.5%) patients. The most frequent TEAEs were fatigue in 29 patients (42.6%), and cytokine release syndrome (CRS) in 26 patients (38.2%). No patient had Grade 3 or more CRS or discontinued treatment due to CRS. There were no Grade 3 or more neurotoxicity events.
As Dr. Zonder notes, responses were observed at all dose levels and a maximally-tolerated dose was not reached at any level. Amongst patients treated at the 96 and 200 mg dose levels, the response rate was 73.3%. Across all dose levels, 92.6% of all responders achieved at least a very good partial response and 48.1% of responders had a complete response (CR) or stringent CR. Patients without extramedullary plasmacytomas responded more frequently than those with them. The Kaplan–Meier estimated median duration of response was not reached. The probability of duration of response ≥8 months was 92.1% with responses ongoing up to 19 months at the latest data cut-off.
Overall, REGN5458 continues to show an acceptable safety and tolerability profile as well as promising durable responses in triple- to penta-refractory patients with relapsed/refractory multiple myeloma.
To learn more about multiple myeloma and other rare cancers, visit checkrare.com/diseases/cancers/
Arnon Kater, MD, PhD, Professor of Internal Medicine in the Faculty of Medicine at the University of Amsterdam discusses new data from the GLOW study of ibrutinib plus venetoclax (I+V) in elderly or unfit chronic lymphocytic leukemia (CLL) patients. The data were recently presented at The American Society of Hematology Meeting & Exposition (ASH 2021).
CLL is a rare blood cancer resulting in a build-up of lymphocytes in bone marrow, lymph nodes, and blood. The disease is considered treatable, but relapse is very common. Furthermore, many CLL patients cannot withstand the intensive chemotherapy needed to bring them into complete remission.
As Dr. Kater explains, the GLOW study (NCT03462719) is a phase 3 clinical trial evaluating the efficacy and safety of I+V in elderly or unfit CLL patients. In this trial, patients receiving I+V are compared to patients receiving chlorambucil plus obinutuzumab (C+O). The primary endpoint is progression-free survival and that data was presented earlier this year. Overall, it was found that risk of disease progression or death was reduced by approximately 78% in patients receiving I+V compared to those receiving C+O.
At ASH 2021, new data was presented looking at undetectable minimal residual disease (uMRD), which is an established predictive marker for PFS in CLL following chemoimmunotherapy. The new data demonstrate that the average rate of uMRD was significantly higher for I+V vs C+O in bone marrow (51.9% vs 17.1%) and in peripheral blood (54.7% vs 39.0%). Furthermore, sustainability of uMRD response between 3 and 12 months following end of treatment was measured; 80.4% of patients in the I+V cohort had sustained uMRD below 10-5 vs. 26.3% in the C+O cohort.
For more information about CLL and other rare cancers, visit checkrare.com/diseases/cancers/
Anne Pariser, MD, Director of the NCATS’ Office of Rare Diseases Research (ORDR), provides an overview of the ORDR and the research they are involved with.
The ORDR is focused on multiple programs to improve the efficacy of rare disease research. Their two largest programs are the Rare Diseases Clinical Research Network (RDCRN) and the Genetic and Rare Diseases Information Center (GARD).
RDCRN provides support for clinical studies and facilitates collaboration, study enrollment and data sharing. Through the RDCRN consortia, researchers work with patient advocacy groups to study over 200 rare diseases at sites across the nation.
GARD provides the public with up-to-date health information on many rare diseases. It has a hotline that people (often parents) can call and ask questions about a particular rare disease.
Numerous other programs are led but the Office of Rare Diseases Research, including the annual “Rare Disease Day at NIH” event held the end of February.
To listen to more interviews with leaders in the rare disease community, sign up for our newsletter at checkrare.com/sign-up-for-our-newsletter/
Drs. Ozlem Goker-Alpan and Uma Ramaswami discuss how the success of therapies to treat lysosomal storage disorders like Pompe disease, Gaucher disease, and various MPSs, has created phenotypes that previously did not exist.
This CME/CE activity is possible through an educational grant from Takeda, Cheisi, Ultragenyx Pharmaceuticals, and Spark Therapeutics.
To obtain credit for this activity, please visit https://checkrare.com/learning-center/courses/
Alan Mendelsohn, MD, Chief Medical Officer at Timber Pharmaceuticals, gives an update on their congenital ichthyosis clinical trial.
Congenital ichthyosis is a rare genetic skin disorder characterized by dry, thickened, and scaling skin. Individuals with this condition may experience limited range in motion, chronic itching, an inability to sweat, and increased risk of infections. Currently, there is no approved targeted therapy for congenital ichthyosis. Symptom management for the condition is most often achieved with topical treatments (e.g., emollients, keratolytics, frequent baths, pumice stones) aimed at reducing the scaling and/or improving skin lubrication.
As Dr. Mendelsohn explains, for many years it has been known that retinoid therapy could play a crucial role in the treatment of congenital ichthyosis. The issue with retinoid therapies, particularly oral options, is their high toxicity when taken long-term. Timber Pharmaceuticals, with this in mind, developed a retinoid therapy that could be applied topically to reduce toxicity and hopefully allow congenital ichthyosis patients to use the therapy long-term.
The phase 2b CONTROL study was a randomized, double-blind, vehicle-controlled study designed to assess the efficacy and safety of two concentrations of TMB-001 (0.05% and 0.1% isotretinoin) for the treatment of two distinct subtypes of moderate-to-severe congenital ichthyosis (X-linked recessive and lamellar ichthyosis) in patients nine years old or older. Subjects applied TMB-001 twice daily for 12 weeks. The primary endpoint was the reduction of targeted ichthyosis severity, determined by a ≥50% reduction in the validated Visual Index for Ichthyosis Severity (VIIS) scaling score. Secondary endpoints included reduction in overall ichthyosis severity, as measured by a two-point improvement using the Investigator Global Assessment (IGA) scale. Topline results of this study showed reduction in targeted and overall severity of ichthyosis in patients in both treatment groups as measured by the VIIS scaling score and the IGA scale.
As Dr. Mendelsohn mentions, Timber Pharmaceuticals is planning for an end-of-Phase 2 meeting with the FDA in the beginning of 2022 and expects to start the Phase 3 study of TMB-001 in Q2 2022.
To learn more about congenital ichthyosis and other rare skin disorders, visit https://checkrare.com/diseases/skin-conditions/
Alan Mendelsohn, MD, Chief Medical Officer at Timber Pharmaceuticals, gives a detailed overview of congenital ichthyosis.
As Dr. Mendelsohn explains, congenital ichthyosis is a rare genetic skin disorder characterized by dry, thickened, and scaling skin. Individuals with this condition may experience limited range in motion, chronic itching, an inability to sweat, and increased risk of infections. Congenital harlequin ichthyosis is a devastating subtype where skin over the entire body is thickened which can inhibit eating and breathing.
Dr. Mendelsohn also notes that there is no approved targeted therapy for congenital ichthyosis. Symptom management for the condition is most often achieved with topical treatments (e.g., emollients, keratolytics, frequent baths, pumice stones) aimed at reducing the scaling and/or improving skin lubrication.
To learn more about congenital ichthyosis and other rare skin disorders, visit https://checkrare.com/diseases/skin-conditions/
Avanish Vellanki, Cofounder and CEO at Rain Therapeutics, discusses the role of p53 and MDM2 in cancers like liposarcoma, the mechanism of action of milademetan, and the positive pre-clinical data presented at the 2021 World Conference of Lung Cancer.
As Mr. Vellanki explains, p53 regulates the cell cycle and is essential for tumor suppression. MDM2 is a crucial regulator of p53. If MDM2 is overexpressed, p53 can be inactivated, leading to tumor growth and cancer progression. Milademetan, Rain Therapeutics’ lead product candidate, inhibits MDM2, and, in doing so, is hypothesized to reactivate p53 and thus control cancer growth in approximately 50% of cancers without a p53 mutation.
Mr. Vellanki notes that MDM2 inhibition has been studied for a number of years. However, in the past, blood toxicity has been an issue. One reason for that is previous treatment regimens would allow the drug to accumulate in the tissues of patients. Milademetan does not accumulate in tissues when patients take milademetan for 3 days and then no treatment for 11 days. This allows the drug to be effective but prevents blood toxicity. This dosing schedule, according to Mr. Vellanki, has led to triple-to-quadruple the length of progression free survival compared to standard of care in liposarcoma, milademetan’s main indication.
At the 2021 World Conference of Lung Cancer, pre-clinical data suggested milademetan could also be safe and effective in treating malignant pleural mesothelioma.
To learn more about liposarcoma and other rare cancers, visit checkrare.com/diseases/cancers/
Daniel Lovell, MD, MPH, Associate Director of the Division of Rheumatology at Cincinnati Children's Hospital Medical Center, gives an overview of juvenile idiopathic arthritis (JIA).
As Dr. Lovell explains, JIA is an umbrella term for a number of diseases in individuals under the age of 16 and characterized by chronic arthritis that persists for at least 6 weeks. There are currently seven recognized subsets of JIA. These include: systemic juvenile idiopathic arthritis, oligoarticular juvenile idiopathic arthritis (also known as oligoarthritis), rheumatoid factor positive polyarticular juvenile idiopathic arthritis (also known as polyarthritis, rheumatoid factor positive), rheumatoid factor negative polyarticular juvenile idiopathic arthritis (also known as polyarthritis, rheumatoid factor negative), psoriatic juvenile idiopathic arthritis, enthesitis-related juvenile idiopathic arthritis, and undifferentiated arthritis. All of these subtypes except systemic JIA are autoimmune conditions while systemic JIA is considered an autoinflammatory disease.
To learn more about JIA and other rare autoimmune/auto-inflammatory diseases, visit checkrare.com/diseases/autoimmune-auto-inflammatory
Drs Ozlem Goker-Alpan and Gregory Grabowski discuss how new research into the pathophysiology of lysosomal storage diseases is changing how we manage these rare diseases. .
This CME/CE activity is possible through an educational grant from Takeda, Cheisi, Ultragenyx Pharmaceuticals, and Spark Therapeutics.
To obtain credit for this activity, please visit https://checkrare.com/learning-center/courses/
Roman Groisberg, MD, Medical Oncologist and Director of the Sarcoma Program at Rutgers Cancer Institute of New Jersey/RWJBarnabas Health, gives an overview of sarcomas.
Roman Groisberg, MD, Medical Oncologist and Director of the Sarcoma Program at Rutgers Cancer Institute of New Jersey/RWJBarnabas Health, discusses treatment options available for different sarcomas.
Daniel Auclair, MD, Chief Scientific Officer of the Multiple Myeloma Research Foundation (MMRF), discusses the foundation’s history and what they are currently doing to progress multiple myeloma research.
Tim Miller, PhD, CEO, President, and Co-Founder of Forge Biologics, gives an overview of Krabbe disease.
Tim Miller, PhD, CEO, President, and Co-Founder of Forge Biologics, discusses the phase 1/2 RESKUE study which will evaluate FBX-101 for the treatment of Krabbe disease. This clinical trial is currently recruiting.
William D. Tap, MD, Chief of the Sarcoma Medical Oncology Service at Memorial Sloan Kettering Cancer Center, gives an overview of tenosynovial giant cell tumors (TGCT), their symptoms, and why a multidisciplinary team is needed to treat them.
Maria Fleseriu, MD, FACE, Professor of Medicine and Neurological Surgery and Director of the Pituitary Center at Oregon Health and Science University provides an overview of acromegaly research highlights presented at ENDO 2021.
This CME activity is possible through an educational grant from Ipsen BioPharmaceuticals, Inc.
To obtain credit for this activity, please visit https://checkrare.com/learning-center/courses/
Please join Drs. Ozlem Goker-Alpan and Ari Zimran as they discuss the latest developments in the treatments for lysosomal storage diseases.
Derralynn Hughes, MD, from the Royal Free London NHS Foundation Trust discusses the latest research about Fabry disease that was presented at WORLDSymposium 2021.
To obtain CME credit, go to https://checkrare.com/learning-center/courses/
Rudolf Baumgartner, MD, Chief Medical Officer and Head of Clinical Development at Saniona, gives an overview of Prader-Willi syndrome (PWS)
Cedric Francois, MD, PhD, Co-Founder & CEO of Apellis Pharmaceuticals, discusses the results of the PEGASUS study evaluating the efficacy and safety of pegcetacoplan in patients with paroxysmal nocturnal hemoglobinuria (PNH).
Cedric Francois, MD, PhD, Co-Founder & CEO of Apellis Pharmaceuticals, gives an overview of paroxysmal nocturnal hemoglobinuria (PNH).
Owen A. O’Connor, Chief Scientific Officer at TG Therapeutics, gives an overview of follicular lymphoma (FL) and marginal zone lymphoma (MZL).
Owen A. O’Connor, Chief Scientific Officer at TG Therapeutics, describes the phase 2 UNITY-NHL study, the results of which led to the FDA’s approval of umbralisib.
Owen A. O’Connor, Chief Scientific Officer at TG Therapeutics, discusses umbralisib, which was approved for the treatment of relapsed or refractory follicular lymphoma (FL) and relapsed or refractory marginal zone lymphoma (MZL)
Rudolf Baumgartner, MD, Chief Medical Officer and Head of Clinical Development at Saniona, gives an overview of Prader-Willi syndrome (PWS) and tesomet, a drug combination under investigation for the treatment of PWS.
As Dr. Baumgartner explains, PWS is a rare genetic endocrine condition that causes hypotonia and hyperphagia. It is caused by genetic abnormalities in the proximal long arm of chromosome 15. PWS is usually detected in childhood due to hypotonic and hyperphagic features of this disorder. While the obsession with food is the overwhelming symptom of PWS, the children have several other symptoms, including numerous cognitive and behavioral problems.
Unfortunately, there is currently no treatment approved for this condition. However, efforts by organizations such as the Prader-Willi Syndrome Association are helping to raise awareness and funds to find therapies for this rare condition.
Miganush Stepanians, PhD, President and CEO of PROMETRIKA, a clinical research organization (CRO), discusses study designs used in rare disease clinical trials and the common struggles researchers face when designing and conducting these trials. Generally, the gold standard for regulatory approval remains the same - a randomized controlled, clinical trial - and that means studies using smaller patient populations have many challenges.
As Dr. Stepanians states, the primary hurdle for them is severely reduced sample sizes. This is tied to an increased heterogeneity in these samples, which is another concern. At the same time, due to the reduced availability of participants, exclusion criteria often cannot be strict enough to reduce this heterogeneity. Other major concerns include a relative lack of knowledge about rare diseases and a lack of accessibility to rare disease clinical trials due to reduced study locations.
Derralynn Hughes, MD, Professor of Experimental Haematology at the University College London provides an overview of the exciting new research presented at ASH 2020 focused on Gaucher disease.
The CME is jointly provided by American Academy of CME, Inc. and CheckRare CE, Inc, and supported by an educational grant from Takeda Pharmaceuticals U.S.A., Inc.
To earn a CME credit, go to https://checkrare.com/learning-center/courses/
Neuromyelitis optica spectrum disorder (NMOSD) is a rare auto-immune that can often be confused with more common conditions, like multiple sclerosis. Ophthalmologist are often the first persons to see these patients but they may be unfamiliar with the symptoms of NMOSD and that can lead to delays in diagnosis.
This CME module about suspecting and diagnosing managing patients with NMOSD during an ophthalmologic visit is hosted by Michael Levy, MD, PhD, Associate Neurologist at Massachusetts General Hospital and Prem Subramanian, MD, PhD, Professor of Ophthalmology at the University of Colorado Hospital.
The CME is jointly provided by American Academy of CME, Inc. and CheckRare CE, Inc, and supported by an educational grant from Alexion Pharmaceuticals.
To earn a CME credit, go to https://checkrare.com/learning-center/courses/
Richard N Channick, MD, Professor of Medicine at David Geffen School of Medicine at UCLA provides an overview of the latest research presented at CHEST 2020 focused on pulmonary arterial hypertension (PAH).
The CME is jointly provided by American Academy of CME, Inc. and CheckRare CE, Inc, and supported by an educational grant from Actelion Pharmaceuticals US, Inc., a Janssen Pharmaceutical Company of Johnson & Johnson.
To earn a CME credit, go to https://checkrare.com/learning-center/courses/
Ozlem Goker-Alpan, MD, Founder and President of the Lysosomal & Rare Disorders Research & Treatment Center, provides an overview of Fabry disease research highlights presented at WORLDSymposium.
This CME activity is possible through an educational grant from Sanofi Genzyme.
To obtain credit for this activity, please visit https://checkrare.com/learning/p-2020world-fabry-disease-highlights-from-worldsymposium-2020/
Neal Weinreb, MD, FACP, Regional Coordinator and Chair of the International Collaborative Gaucher Group provides an overview of Gaucher disease research highlights presented at WORLDSymposium.
This CME activity is possible through an educational grant from Sanofi Genzyme.
To obtain credit for this activity, please visit https://checkrare.com/learning/p-2020world-gaucher-disease-highlights-from-worldsymposium-2020/
Barbara K. Burton, MD from the Northwestern University Feinberg School of Medicine
Chicago, IL provides an overview of Mucopolysaccharidoses (MPSs) Highlights from WORLDSymposium.
This CME activity is possible through an educational grant from Ultragenyx Pharmaceutical Inc
To obtain credit for this activity, please visit https://checkrare.com/learning/p-2020world-mps-highlights-from-worldsymposium-2020/
Morie A Gertz, MD, MACP, Professor of Medicine at the Mayo Clinic College of Medicine and Science in Rochester, Minnesota discusses signs and symptoms that are suspicious of ATTR amyloidosis.
This CME activity is possible through an educational grants from Akcea Therapeutics and Alnylam Pharmaceuticals.
To obtain credit for this activity, please visit https://checkrare.com/learning/p-managing-attr-module1-suspecting-attr-amyloidosis/
Morie A Gertz, MD, MACP, Professor of Medicine at the Mayo Clinic College of Medicine and Science in Rochester, Minnesota discusses best practices to diagnose ATTR amyloidosis.
This CME activity is possible through an educational grants from Akcea Therapeutics and Alnylam Pharmaceuticals.
To obtain credit for this activity, please visit https://checkrare.com/learning/p-managing-attr-module2-diagnosing-attr-amyloidosis/
Nancy L. Kuntz, MD, FAAN, Professor of Pediatrics and Neurology at Northwestern University Feinberg School of Medicine provides an overview of the importance of genetic counseling for spinal muscular atrophy (SMA).
This CME activity is possible through an educational grant from AveXis.
To obtain credit for this activity, please visit https://checkrare.com/learning/p-spinal-muscular-atrophy-module4-genetic-counseling-sma/
Nancy L. Kuntz, MD, FAAN, Professor of Pediatrics and Neurology at Northwestern University Feinberg School of Medicine provides an overview of the importance of newborn screening for spinal muscular atrophy (SMA).
This CME activity is possible through an educational grant from AveXis.
To obtain credit for this activity, please visit https://checkrare.com/learning/p-spinal-muscular-atrophy-module3-newborn-screening-sma/
Nancy L. Kuntz, MD, FAAN, Professor of Pediatrics and Neurology at Northwestern University Feinberg School of Medicine provides an overview of best practices to treat spinal muscular atrophy (SMA).
This CME activity is possible through an educational grant from AveXis.
To obtain credit for this activity, please visit https://checkrare.com/learning/p-spinal-muscular-atrophy-module2-managing-sma/
Nancy L. Kuntz, MD, FAAN, Professor of Pediatrics and Neurology at Northwestern University Feinberg School of Medicine provides an overview of best practices to diagnose spinal muscular atrophy (SMA).
This CME activity is possible through an educational grant from AveXis.
To obtain credit for this activity, please visit https://checkrare.com/learning/p-spinal-muscular-atrophy-module1-diagnosing-sma/
Edward M Wolin, MD, Professor of Medicine from the Icahn School of Medicine at Mount Sinai provides an overview of neuroendocrine tumors research highlights presented at ENDO 2020.
This CME activity is possible through an educational grant from Ipsen BioPharmaceuticals, Inc.
To obtain credit for this activity, please visit https://checkrare.com/learning/p-endo2020-neuroendocrine-tumors-nets-abstract-highlights/
Judy Shizuru, MD, Blood and Marrow Transplant Specialist, Stanford University School of Medicine, discusses clinical data from an ongoing phase 1 trial of JSP191 in patients with severe combined immune deficiency (SCID).
SCID is a group of inherited immune system disorders characterized by abnormalities with responses of both T cells and B cells. Common symptoms include an increased susceptibility to infections including ear infections; pneumonia or bronchitis; oral thrush; and diarrhea.
As Dr. Shizuru explains, JSP191 is a humanized monoclonal antibody in clinical development as a conditioning agent that clears hematopoietic stem cells from bone marrow.
Preclinical studies have shown that JSP191 as a single agent safely decreases normal and diseased hematopoietic stem cells, including in animal models of SCID, myelodysplastic syndromes (MDS) and sickle cell disease (SCD). JSP191 is currently being evaluated as a sole conditioning agent in a phase 1/2 trial evaluating the safety and tolerability of JSP191 in patients undergoing hematopoietic cell transplant for SCID. JSP191 is also being evaluated in a phase 1 study in patients with MDS or acute myeloid leukemia (AML) who are receiving hematopoietic cell transplant.
To learn more about SCID and other rare autoimmune disorders, visit https://checkrare.com/diseases/autoimmune-auto-inflammatory-disorders/
Michel Michaelides, MD, of UCL Institute of Ophthalmology; Moorfields Eye Hospital provides an overview of X-linked retinitis pigmentosa (XLRP), including its symptoms, common treatments, as well as a summary of the latest interim data from the MGT009 trial.
Maurice Ohayon, MD, PhD, Professor of Psychiatry and Behavioral Sciences at
Stanford University summarizes key research on narcolepsy presented at the American Academy of Neurology (AAN) 2020 annual meeting.
To obtain CME credit, go to https://checkrare.com/learning/p-aan2020-narcolepsy-abstract-highlights-from-aan-2020/
Michael Levy, MD, PhD, Associate Professor, Harvard Medical School summarizes key research on neuromyelitis optica spectrum disorder (NMOSD) presented at the American Academy of Neurology (AAN) 2020 annual meeting.
To obtain CME credit, go to https://checkrare.com/learning/p-aan2020-nmosd-abstract-highlights-from-aan-2020/
Paul Orchard, MD from the University of Minnesota Medical School discusses Mucopolysaccharidosis I (MPS I) in this four part learning program.
MPS I meets all the criteria to be part of newborn screening panel, and is included in the Federal Government’s Recommended Uniform Screening Panel (RUSP). As the number of states that include MPS I in the panel increases, clinicians need to be recognize the value newborn screening can bring to persons with these conditions. In this module, our faculty educator will explain the value of having MPS I as part of a newborn screening program.
Mucopolysaccharidosis I (MPS I) follows an autosomal recessive inheritance pattern. Therefore, diagnosing a person with this disease means that their close relatives should also be tested to see if they have the disease or are carriers of the disease. Both scenarios can be useful to plan the person’s future as an individual and as a potential parent. In this module, our faculty educator will explore genetic counseling for MPS I.
Paul Orchard, MD from the University of Minnesota Medical School discusses Mucopolysaccharidosis I (MPS I) in this four-part CME/CE series.
Without treatment, the prognosis for individuals with Mucopolysaccharidosis I (MPS I), especially the more severe form of the disease, is discouraging. Early access to treatment is also important in order to reduce disease damage and progression. In this module, our faculty educator will explore strategies for treating MPS I.
Paul Orchard, MD from the University of Minnesota Medical School discusses early symptoms for Mucopolysaccharidosis I (MPS I), especially in those with the attenuated form of the disease,. Since this progressive disease has a treatment that can slow progression, it is imperative that clinicians recognize symptoms early so a correct diagnosis can be made. In this module, our faculty educator will explore making a proper diagnosis of MPS I.
Paul Orchard, MD from the University of Minnesota Medical School provides an overview of Mucopolysaccharidosis I (MPS I).
MPS I follows an autosomal recessive inheritance pattern. Therefore, diagnosing a person with this disease means that their close relatives should also be tested to see if they have the disease or are carriers of the disease. Both scenarios can be useful to plan the person’s future as an individual and as a potential parent. In this module, our faculty educator will explore genetic counseling for MPS I.
Peter Tebben, MD, of the Department of Pediatric and Adolescent Medicine, and Assistant Professor of Medicine at the Mayo Clinic in Rochester, MN provides an overview of tumor-induced osteomalacia (TIO).
Recently, the US Food and Drug Administration (FDA) provided clearance to proceed with a Phase 2 clinical trial assessing HST5040 to treat children with propionic acidemia and methylmalonic acidemia, two rare inborn error of metabolism conditions that currently have limited treatment options. We talked with one of the principal investigators of the study, Marshall Summar, MD, Division Chief, Genetics and Metabolism and Director of the Rare Disease Institute at Children’s National Hospital.