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

ACCME Accredited Roundtable (0.75 CME credit)

Declaration of sponsorship Amicus Therapeutics, Inc.
Read time: 50 mins
Last updated:10th Mar 2023
Published:9th Feb 2023

Unmet needs in Pompe disease: Highlights from World Muscle Society Congress 2022

Enduring video of the live ACCME®-accredited roundtable with Q&A session

This event was on Wednesday 18 January 2023, 15:00 GMT
Release date: 09/02/2023, expiry date 09/02/2024

Watch the enduring video of this live 30-minute ACCME®-accredited roundtable (0.75 CME credit) with Q&A session, where speakers discuss the unmet needs and burden of Pompe disease, highlight the importance of early diagnosis, and review existing therapeutic options for managing this condition in light of recent developments presented at the WMS 2022 (agenda).

After watching this enduring video of the live event, you will see a questionnaire to gauge what you have learned and provide feedback. You will need to complete this questionnaire and watch the highlights to receive your 0.75 ACCME points.

Please view the full roundtable video to claim these ACCME points. An evaluation form to gain the credits appears at the end of the video. If you exit the window, your progress will not be saved.

Live Webinar Roundtable Agenda

Unmet needs in Pompe disease: Highlights from World Muscle Society Congress 2022
Date and time: Wednesday 18 January 2023, 15:00 GMT
Chair: Professor Jordi Díaz-Manera  
Introduction Professor Jordi Díaz-Manera
Topic 1: Unmet needs and burden of Pompe disease Mr Allan Muir
Topic 2: Early diagnosis of Pompe disease Professor Benedikt Schoser
Topic 3: Treatments for Pompe disease Professor Jordi Díaz-Manera
Q&A All
Closing remarks Professor Jordi Díaz-Manera

Learning Objectives

This roundtable aims to improve awareness of:

  • The current clinical and socioeconomical burden of Pompe disease, and the unmet needs regarding its early diagnosis, management, treatment, and monitoring
  • Early Pompe disease diagnosis, understanding the signs and symptoms of infantile- and late-onset Pompe disease, common misdiagnoses, and strategies for confirming a diagnosis
  • Treatments for Pompe disease, including enzyme replacement therapy (ERT), and the importance of monitoring disease progression, emphasising the need for a multidisciplinary team and patient involvement to ensure appropriate management

Target Audience

This activity has been designed to meet the educational needs of Neuromuscular specialists, geneticists, neurologists, Lysosomal disease specialists, genetic counsellors, Paediatricians, GPs, and specialist nurses.


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.

Meet the roundtable expert panel

Professor Jordi Díaz-Manera.pngProfessor Jordi Díaz-Manera

Professor Jordi Díaz-Manera is Professor of Neuromuscular Disorders at Newcastle University, and Honorary Consultant Clinical Geneticist with the Newcastle Hospitals NHS Foundation Trust.

Jordi’s clinical research projects are focused on the characterisation of large cohort of patients with muscular dystrophies, the implementation of quantitative muscle magnetic-resonance imaging (MRI) for the diagnosis and follow-up of patients with muscular diseases, and the development of new outcome measures for clinical trials and natural history studies. His basic research interest focuses on the process of muscle fibre degeneration and the replacement of muscle tissue by fat and fibrosis that takes place in patients with muscular dystrophies.


Jordi Diaz Manera, MD - Advisory board or panel fees from Amicus, Astellas, Sarepta and Sanofi Genzyme. Grants/research support from Boehringer-Ingelheim, Spark, Sanofi and Sarepta. Other financial or material support from Boehringer-Ingelheim.

Allan Muir.pngMr Allan Muir

As the parent of a son with Pompe disease, Allan has been involved with the Pompe Community for over 30 years. He manages a national charity that supports Glycogen Storage Diseases for 9 years and has chaired the Pompe Support Network for three years. Allan is currently vice-chair of the International Pompe Association.


Allan Muir – Advisory board or panel fees from Amicus Therapeutics, Audentes Therapeutics, AvroBio and Maze Therapeutics.


Professor Benedikt Schoser.pngProfessor Benedikt Schoser

Professor Benedikt 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.

Benedikt is interested 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 morphological and molecular analyses, including neuromuscular animal models. He has a special interest in translational gene therapy of myotonic dystrophies and glycogen storage disorders.


Benedikt Schoser, MD - Advisory board or panel fees from Amicus, Argenx, Astellas, Avrobio, Maze Therapeutics, PepGen, Sanofi and Taysha. Grants/research support from Amicus and Astellas. Speakers bureau fees from Alexion and Kedrion.

Content Reviewer 

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


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 

In order 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. 

If you have questions regarding credit please contact  



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 0.75AMA PRA Category 1 CreditTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity. 

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 CreditTM into European CME credit (ECMEC) should contact the UEMS (

Advanced Practice Providers 

Physician Assistants may claim a maximum of 0.75 Category 1 credits for completing this activity. NCCPA accepts AMA PRA Category 1 CreditTM from organizations accredited by ACCME or a recognized state medical society. 

The AANPCP accepts certificates of participation for educational activities approved for AMA PRA Category 1 CreditTM by ACCME-accredited providers. APRNs who participate will receive a certificate of completion commensurate with the extent of their participation. 

Date of original release: 18 January, 2023. Date credit expire: 17 January, 2024. 

If you have any questions regarding credit please contact 

This Activity Is Funded By: 

An independent medical education grant from Amicus Therapeutics, Inc.

This activity is jointly provided by USF Health and EPG Health.

The information provided by this CE activity is for continuing education purposes only and is not meant to substitute for the independent medical/clinical judgment 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.

USF Health is accredited by the Accreditation Council for Continuing Medical Education, the American Nurses Credentialing Center and the Accreditation Council for Pharmacy Education to provide continuing education to healthcare professionals. As an accredited provider, USF Health is required to disclose personal information to relevant accredited bodies that certify CE to process credits/contact hours, comply with reporting requirements, and for internal recordkeeping and regulatory purposes. USF Health does not share or sell any individual’s contact information or unique identifiers to any commercial supporter, advertiser, or third party without the specific permission of the individual.