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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with late onset Pompe Disease |
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Inclusion Criteria:
Exclusion Criteria:
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Tower Hematology/Oncology Medical Group | Beverly Hills | California | 90211 | United States | ||
| Children's National Medical Center |
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| Washington D.C. |
| District of Columbia |
| 20010 |
| United States |
| Washington University Medical Center | St Louis | Missouri | 63110 | United States |
| Mount Sinai School of Medicine | New York | New York | 10029 | United States |
| University of Pittsburgh Medical Center | Pittsburgh | Pennsylvania | 15213 | United States |
| ID | Term |
|---|---|
| D006009 | Glycogen Storage Disease Type II |
| ID | Term |
|---|---|
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D006008 | Glycogen Storage Disease |
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
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