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This study is aimed to investigate that whether the higher dose ERT improve safety and clinical outcomes of Pompe disease patients. Also, wish to develop a new therapeutic recommendation and hope that it could improve the long-term outcomes of Pompe diesease patients.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Alglucosidase Alfa | Drug | Standard dose: 20-25 mg/kg every other week; Higher dose: >25 mg/kg every other week. |
| Measure | Description | Time Frame |
|---|---|---|
| Forced vital capacity | Pulmonary function test (Units: percentage of predictive value) | For patient older than 3-year-old, first test before study, then every six months, up to 2-years. |
| Peak expiratory flow | Pulmonary function test (Units: percentage of predictive value) | For patient older than 3-year-old, first test before study, then every six months, up to 2-years. |
| Polysomnography | Comprehensive test used to diagnose sleep disorders. | For patient older than 6-month-old, first test before study, then every six months, up to 2-years. |
| Measure | Description | Time Frame |
|---|---|---|
| uGLC4 | Urine glucose tetrasaccharide (Units: mmol/mol Creatinine). | uGLC4 will be tested before the treatment, then every three months, up to 2-years. |
| CK | Blood creatine kinase (Units: units per liter, U/L). |
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Inclusion Criteria:
Exclusion Criteria:
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The observational population included patients of Pompe disease who were diagnosed and treated in our series.
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| 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 |
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| ID | Term |
|---|---|
| C509951 | GAA protein, human |
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| CK will be tested before the treatment, then every three months, up to 2-years. |
| AST | Blood aspartate aminotransferase (Units: units per liter, U/L). | AST will be tested before the treatment, then every three months, up to 2-years. |
| ALT | Blood alanine aminotransferase (Units: units per liter, U/L). | ALT will be tested before the treatment, then every three months, up to 2-years. |
| Body weight | Change of body weight (Unit: kilogram, kg) | The body weight will be monitored before the treatment, then every two weeks, up to 2-years. |
| Body height | Change of body height (Units: centimeter, cm) | The body height will be monitored before the treatment, then every two weeks, up to 2-years. |
| Antibody titers | Alglucosidase alfa IgG antibody titer | First test will be one month later after first ERT, then every six months, up to 2-years. |
| 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 |