A Primer for Family Medicine and Primary Care: Focusing on Pompe Disease

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Release Date:
September 1, 2019

Expiration Date:
September 1, 2020

Time to Complete
1 hour

Activity Description
Recognizing Pompe disease, a progressive, debilitating and often fatal neuromuscular disease caused by a genetic deficiency or dysfunction of the lysosomal enzyme acid alpha-glucosidase (GAA), can be challenging, as its signs and symptoms are like those of other diseases and disorders. As a result, Pompe disease may not be readily considered during the clinical work up and significant diagnostic delays are common in many patients.

During this activity, we shall review the importance of early diagnosis, how the disease can present at different ages through sample case vignettes, as well as discuss advances in the ongoing monitoring and management of these patients. Early recognition is critical for improved outcomes since the disease continues to progress relentlessly, with many patients going undiagnosed for years, with debilitating and often life-threatening impact.

Target Audience
This educational initiative is designed for primary care, internal medicine, and family practice physicians, pediatricians, and other HCPs who are interested in improving their knowledge and competence regarding Pompe disease.

Learning Objectives
After this educational activity, you should be able to:

  • Briefly define lysosomal storage diseases and discuss newborn screening and its impact on identifying many of these disorders
  • Recognize clinical signs and symptoms and genotype/phenotype diversity in Pompe disease
  • Review management guidelines and available treatment options for Pompe
  • Assess the role of the primary care/internal medicine physician in the multidisciplinary management of Pompe

Presenter: Priya Kishnani, MD has indicated that she has received research grant support from Sanofi Genzyme, Valerion Therapeutics, and Amicus Therapeutics; consulting fees and honoraria from Sanofi Genzyme, Amicus Therapeutics, Vertex, and Asklepios Biopharmaceutical (AskBio), and is a member of the Pompe and Gaucher disease advisory board for Sanofi Genzyme, Amicus Therapeutics, and Baebies. She also has equity in AskBio Therapeutics.
Peer reviewer and EXCEL staff have no relevant financial information to disclose.

Dr. Priya Kishnani, MD
C.L. and Su Chen Professor of Pediatrics
Medical Director, YT and Alice Chen Pediatrics Genetics and Genomics Center
Division Chief, Medical Genetics
Duke University Medical Center
Durham, NC, USA

Instructions for Ontaining Credit
Once you have completed the activity, please click the "submit" button to complete the evaluation questions and proceed to the claim credit screen.

Accreditation Information
EXCEL Continuing Education is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

EXCEL Continuing Education designates this live activity for a maximum of 1 AMA/PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

  • Physician Assistants: AAPA accepts AMA Category 1 Credit™ from organizations accredited by the ACCME.
  • Nurse Practitioners: AANP accepts AMA Category 1 Credit™ from organizations accredited by the ACCME.

This educational initiative is supported by an educational grant from