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.
Study Type
OBSERVATIONAL
Enrollment
60
Tower Hematology/Oncology Medical Group
Beverly Hills, California, United States
Children's National Medical Center
Washington D.C., District of Columbia, United States
Washington University Medical Center
St Louis, Missouri, United States
Mount Sinai School of Medicine
New York, New York, United States
University of Pittsburgh Medical Center
Pittsburgh, Pennsylvania, United States
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