Screening & Treatment of Pompe Disease:

Clinical Advances in a Changing Landscape
February 5, 2022 : 12:00p – 1:00p ET

1.0 CME/CE credit hour

Supported by an educational grant from Spark Therapeutics, Inc.

What is a BRAINWeek stemINAR Live Webinar?

BRAINWeek stemINAR certified live webinars will address both rare and commonly diagnosed CNS disorders.

How rare is a rare disease?

While the number of people affected by a rare, particular disease may be small, the total number of people with a rare disease—an estimated 25 to 30 million in the United States—is enormous! 

What is Pompe disease?

It is a glycogen storage disease type II, and considered to be a rare inherited autosomal recessive disorder caused by mutations in the gene that encodes for acid alpha-glucosidase (GAA). This BRAINWeek live, virtual stemINAR has been developed for specialists and frontline practitioners treating CNS disorders associated with rare diseases.

What are its symptoms?

Symptoms include muscle weakness, myopathy, an abnormally large heart, muscle pain over a large area, loss of ability (or difficulty) exercising, trouble breathing, lung infections, weight loss, headaches, tiredness, and delayed development. Deficiencies in GAA can result in the disruption and disablement of cellular function in smooth muscle, the heart, the diaphragm, and other skeletal muscles. It is often fatal, with an average life expectancy (depending on onset) between 30 and 50 years; the average life expectancy in classic infantile Pompe disease is less than 2 years.

How is it diagnosed?

Pompe disease can be confirmed through GAA enzyme activity tests or through genetic screening. There needs to be a sequential and differential evaluation of medical causes like hypothyroidism, sepsis, malnutrition, malabsorption, and congenital heart disease, an evaluation of neurological etiologies (central or cerebral and peripheral or lower motor unit), and anatomic characteristics of abnormality.

Learning Objectives

  • Describe the pathogenesis and diagnostic algorithm of Pompe disease
  • Summarize the impact of Pompe disease on a person’s quality of life and the unmet need for patients
  • Outline the progressive nature of Pompe disease and the importance of early initiation of treatment
  • Review current treatment options for Pompe disease
  • Discuss emerging therapies and the changing treatment landscape of Pompe disease


Tahseen Mozaffar, MD, FAAN

Professor of Neurology,
Orthopedic Surgery, Pathology, and Laboratory Medicine

University of California, Irvine

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