World Muscle Society podcast series

Podcast: Multidisciplinary perspectives on Pompe disease management

In this ACCME^®-accredited podcast series, leading experts in the field of Pompe disease field share their insights on key learnings related to the multisystemic disease management. Each podcast session is fifteen minutes in duration.

Session 1: Pompe: a multisystemic disease that requires a multidisciplinary team​

Traditionally, Pompe disease was viewed as a muscle disorder. Dr Kishnani and Professor Schoser discuss why this view of Pompe disease is incomplete, and why it is best viewed as multisystemic. This session is worth 0.25 CME points.

Session 2: The importance of appropriate screening and timely diagnosis of Pompe disease​

In this session, Dr Kishnani and Professor Schoser examine the rationale supporting newborn screening for Pompe Disease, and the clinical challenges that affect optimal neonatal screening and diagnosis for Pompe. Session 2 is worth 0.25 CME points.

Session 3: Signs and symptoms of Pompe disease and monitoring disease progression

Professor Tarnopolsky and Dr Cohen describe common signs and symptoms of infantile- and late-onset Pompe disease (IOPD, LOPD), intervention timing, and best-practices for monitoring disease progression in both disease subtypes. This session is worth 0.25 CME points.

Session 4: Multidisciplinary care of Pompe disease

In the final podcast session, Dr Cohen and Professor Tarnopolsky review the key principles of multidsicplinary care for IOPD and LOPD, and core members of the care team. Session 4 is 0.25 CME points.

Podcast learning objectives

After watching this activity, participants should be better able to:

• Describe the multidisciplinary team members that comprise the management team of Pompe disease
• Conduct appropriate screening and timely diagnosis of Pompe disease
• Monitor Pompe disease progression in infantile-onset and late-onset Pompe disease
• Give reasons why management of Pompe disease requires a multidisciplinary focus

Target audience

This activity has been designed to meet the educational needs of neuromuscular specialists, geneticists, neurologists, cardiologists, and orthopaedists.

Meet the podcast experts

Professor Priya Sunil Kishnani

Dr Kishnani is Chief of the Division of Medical Genetics in the Department of Pediatrics, and Professor of Molecular Genetics and Microbiology, at Duke University Medical Center.

Her passion is to establish the highest quality of care and treatment by understanding the emerging natural history of individuals through investigator-initiated studies and clinical research trials with a focus on glycogen and lysosomal storage disorders.

Dr Kishnani was involved in the clinical development of alglucosidase alfa for the treatment of Pompe disease, resulting in its FDA approval in 2006, and in the development of development of avalglucosidase alfa-ngpt as a second-generation enzyme treatment, which was approved by the FDA in 2021.

Disclosures:

Research/grant support: Sanofi Genzyme, Amicus Therapeutics.

Consulting fees and honoraria: Sanofi Genzyme, Amicus Therapeutics, Maze Therapeutics, Bayer, Asklepios Biopharmaceutical, Inc (AskBio).

Dr Kishnani is a member of the Pompe and Gaucher Disease Registry Advisory Board for Sanofi Genzyme, Pompe Disease Advisory Board for Amicus Therapeutics, and Advisory Board for Baebies.

Dr Kishnani has equity in Asklepios Biopharmaceutical, Inc (AskBio), and Maze Therapeutics.

Professor Benedikt Schoser

Professor Schoser is senior consultant at the Friedrich-Baur-Institute, Department of Neurology at the Ludwig-Maximilians-University of Munich, Germany. He is member of the executive board of the World Muscle Society and member of the European academy of Neurology panel for neuromuscular disorders.

Professor Schoser has a long-standing interest in the pathogenesis and histopathology of muscular dystrophies, myotonic dystrophies, and metabolic myopathies. Within the neuromuscular research group at Friedrich-Baur-Institute he is engaged in all types of morphological and molecular analyses including neuromuscular animal models. He has a special interest in translational gene therapy of myotonic dystrophies and glycogen storage disorders.

Disclosures:

Advisory board or panel fees: Amicus, Argenx, Astellas, Avrobio, Maze Therapeutics, PepGen, Sanofi and Taysha.

Grants/research support: Amicus and Astellas.

Speakers bureau fees: Alexion and Kedrion

Professor Mark Tarnopolsky

Dr Tarnopolsky holds an endowed chair from McMaster Children’s Hospital Foundation in neuromuscular and neurometabolic genetic disorders. His research focuses on pharmacological, nutraceutical and exercise therapies for neuromuscular and neurometabolic disorders, aging, obesity, and other disorders that affect the mitochondria and muscle function. He was the co-founder and CSO of Life Science Nutritionals and has been involved in the start-up of several other university spin-off companies. He is the founder, CEO, and CSO of Exerkine Corporation, which is a bio-technology/nutraceutical company developing therapies for aging, obesity, muscular dystrophy, and mitochondrial disorders.

Disclosures:

Membership on advisory boards or speakers’ bureaus: Sanofi-Genzyme, Reneo Pharma.

Funded grants or clinical trials: CIHR.

Patents on a drug, product, or device: Exerkine Corporation.

Assistant Professor Jennifer Cohen

Jennifer Cohen is Assistant Professor of Pediatrics in the Division of Medical Genetics at Duke University. Her research interests and expertise are in perinatal genetic medicine with a current focus on earlier diagnosis and management of rare genetic diseases. She is actively involved in the Pompe disease gene therapy trials at Duke. Her long-time research interests and training have led her to pursue the study of in utero treatment for lysosomal storage diseases and to pursue implementation of more rapid and comprehensive neonatal diagnostic testing in critically ill infants.

Disclosures:

Consults for Bayer HealthCare Pharmaceuticals.

Disclosures

USF Health adheres to the Standards for Integrity and Independence in Accredited Continuing Education. All individuals in a position to influence content have disclosed to USF Health any financial relationship with an ineligible organization. USF Health has reviewed and mitigated all relevant financial relationships related to the content of the activity. The relevant financial relationships are listed below. All individuals not listed have no relevant financial relationships.

Content reviewer

Reviewer, Rebecca Hurst, MD, no financial interests/relationships or affiliations in relation to this activity.

Staff

USF Health Office of Continuing Professional Development and EPG Health staff have no relevant financial interests/relationships or affiliations in relation to this activity.

Requirements for successful completion

To receive credit for this activity, participants must review the content and complete the post-test and evaluation form. Statements of credit are awarded upon successful completion of the post-test and evaluation form.

Date of original release: 03/07/2023. Date credit expire: 03/07/2024.

If you have questions regarding credit, please contact cpdsupport@usf.edu 

Accreditations

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 a joint providership of USF Health and EPG Health. USF Health is accredited by the ACCME^® to provide continuing medical education for physicians.

USF Health designates this enduring activity for a maximum of 1.00 Category 1 Credit^TM. Physicians should claim only the credit commensurate with the extent of their participation in the activity (one session is 0.25 CME points).

The European Union of Medical Specialists (UEMS) – European Accreditation Council for Continuing Medical Education (EACCME^®) has an agreement of mutual recognition of continuing medical education (CME) credit with the American Medical Association (AMA). European physicians interested in converting AMA PRA Category 1 Credit^TM into European CME credit (ECMEC) should contact the UEMS (www.uems.eu)

Advanced practice providers

• Physician Assistants may claim a maximum of (# of hours) Category 1 credits for completing this podcast
• NCCPA accepts AMA PRA Category 1 Credit^TMfrom organisations accredited by ACCME^® or a recognised state medical society
• The AANPCP accepts certificates of participation for educational activities approved for AMA PRA Category 1 Credit^TM by ACCME^®-accredited providers
• APRNs who participate will receive a certificate of completion commensurate with the extent of their participation

Activity funding

This podcast is funded by an independent medical education grant from Amicus Therapeutics, Inc. This podcast is jointly provided by USF Health and EPG Health.

The information provided by this CE podcast is for continuing education purposes only and is not meant to substitute for the independent medical/clinical judgement of a healthcare provider relative to diagnostic and treatment options of a specific patient’s medical condition.

USF is an Equal Opportunity / Affirmative Action / Equal Access Institution.

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