Clinical Trial: Screening Protocol to Evaluate Acid Alpha-Glucosidase (GAA) Activity and GAA Gene Mutations in Patients With Late Onset Pompe Disease

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Screening Protocol to Evaluate Acid Alpha Glucosidase (GAA) Activity and GAA Gene Mutations in Patients With Late Onset Pompe Disease for Potential Inclusion in Future Cli

Brief Summary: Pompe disease (also known as glycogen storage disease type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures called lysosomes. In patients with Pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. The primary objective of this study is to identify potential candidates for future clinical studies in Pompe disease.

Detailed Summary:
Sponsor: Genzyme, a Sanofi Company

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Original Secondary Outcome:

Information By: Sanofi

Dates:
Date Received: June 3, 2005
Date Started: May 2005
Date Completion:
Last Updated: May 4, 2015
Last Verified: May 2015