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Pompe Disease: Key findings from WMS 2022
Declaration of sponsorship Amicus Therapeutics, Inc.

World Muscle Society podcast series

Declaration of sponsorship Amicus Therapeutics, Inc.
Read time: 70 mins
Last updated:2nd Jul 2023
Published:2nd Jul 2023

Podcast: Multidisciplinary perspectives on Pompe disease management

In this 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‚Äč

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.


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

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 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.


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.

 

Meet the podcast experts

Professor Priya Sunil Kishnani.pngProfessor 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.pngProfessor 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.pngProfessor 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.pngAssistant 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.

Welcome: