US FDA Grants Expanded Approval of ELEVIDYS Gene Therapy for DMD Patients Ages 4 and Above

Medical Educational Resource

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What's New in Pompe Disease

Activity Snapshot

Activity Type: 
Release Date: 
Tuesday, December 7, 2021
Sponsor Information: 

This program is supported in part by an independent educational grant from Sanofi Genzyme.


Nicola Longo, MD, PhD
Professor of Pediatrics and Chief
Division Of Medical Genetics, University of Utah
Activity Overview: 

This speaker slide set will provide an overview of Pompe disease, including recognizing clinical symptoms, clinical management of the disease and the role of multidisciplinary care to optimize treatment outcomes.

Learning Objectives: 
  • Identify clinical presentation of the different Pompe disease subtypes, which differ in severity and age of onset
  • Understand the role of genetic testing in diagnosis of Pompe disease ​
  • Current management strategies; Enzyme replacement and supportive strategies​
  • Understand the role of multidisciplinary care in optimizing treatment outcomes​
  • Determine a plan for genetic testing and counseling of at-risk family members​ Identify emotional stressors and their impact on mental health of patients and caregivers​ Incorporate recent advances in clinical studies into patient care and provide guidance to patients on the benefits of and opportunities for participation in Pompe disease research