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A Prospective, Observational Study in Patients With Late-Onset Pompe Disease

2014-08-27 03:54:34 | BioPortfolio

Summary

Pompe disease (also known as glycogen storage disease type II, "GSD-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.

This study is being conducted to collect prospective, observational data on patients with late-onset Pompe disease. Approximately 60 subjects with late-onset Pompe disease will be enrolled.

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Conditions

Glycogen Storage Disease Type II

Location

Children's Hospital Medical Center
Washington
District of Columbia
United States
20010

Status

Completed

Source

Genzyme

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:54:34-0400

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