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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 overall objective of this study is to evaluate the long-term safety and efficacy of Myozyme treatment in patients with infantile-onset Pompe disease.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 1 | Experimental |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Myozyme | Biological | 20 mg/kg qow or 40 mg/kg qow |
|
|
| Measure | Description | Time Frame |
|---|---|---|
| Long-term Safety and Efficacy | 52 weeks |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Medical Monitor | Genzyme, a Sanofi Company | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Alabama | Birmingham | Alabama | 35233 | United States | ||
| Shands Hospital at the University of Florida |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 19775921 | Derived | Kishnani PS, Goldenberg PC, DeArmey SL, Heller J, Benjamin D, Young S, Bali D, Smith SA, Li JS, Mandel H, Koeberl D, Rosenberg A, Chen YT. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab. 2010 Jan;99(1):26-33. doi: 10.1016/j.ymgme.2009.08.003. |
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| Gainesville |
| Florida |
| 32610 |
| United States |
| Miami Children's Hospital | Miami | Florida | 33155 | United States |
| Emory University Medical Genetics | Decatur | Georgia | 30033 | United States |
| Duke University Medical Center | Durham | North Carolina | 27710 | United States |
| Children's Hospital Medical Center | Cincinnati | Ohio | 45229 | United States |
| CHU Amiens | Amiens | 80054 | France |
| CHU Cote de Nacre | Caen | 14033 | France |
| Universitats-Kinderklinik Mainz | Mainz | 55131 | Germany |
| Rambam Medical Center | Haifa | 35254 | Israel |
| San Gerardo Hospital | Monza | 20052 | Italy |
| Erasmus MC University | Rotterdam | 3015 GJ | Netherlands |
| Tzu-Chi General Hospital | Hualien City | 970 | Taiwan |
| Chi-Mei Medical Center Dept of Pediatrics | Tainan | 710 | Taiwan |
| 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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| ID | Term |
|---|---|
| C509951 | GAA protein, human |
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