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Relation between clinical and genetic features and acute digestive events in Duchenne muscular dystrophy patients
Clinical Data of the disease Digestive events (pseudo occlusion, gastrostomy, cholecystectomy) Nutritionnal parameters Genetic of dystrophin (approved genetic nationnal Data base, CHU Cochin, Paris France)
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| Measure | Description | Time Frame |
|---|---|---|
| Incidence of digestive events | Clinical parameters (yes or no): gastrostomy, bowel occlusion, acute gastric paresia, biliary complication | 11 years |
| Prevalence of digestive events | Clinical parameters (yes or no) : gastrostomy, bowel occlusion, acute gastric paresia, biliary complication | 11 years |
| Risk factors for digestive events (1) | age (years) | 11 years |
| Risk factors for digestive events (2) | pulmonary functional tests (vital capacity in ml/kg) | 11 years |
| Risk factors for digestive events (3) | echocardiography parameters (LVEF: left ventricular ejection fraction in %) | 11 years |
| Risk factors for digestive events (4) | residual dystrophin level (Western blot and/or immunohistochemistry in muscle) | 11 years |
| Risks factors for digestive events (5) | genetic parameters (type of mutation, functional domain of altered dystrophin) | 11 years |
| Measure | Description | Time Frame |
|---|---|---|
| Nutritional status (1) | Weigh (kg) and height (in m) agregated in BMI (kg/m^2) | 11 years |
| Nutritional status (2) | albuminemia in g/L |
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Inclusion Criteria:
Exclusion Criteria:
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Only male patients, due to the specific disease (Duchenne muscular dystrophy patients)
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Duchenne muscular dystrophy patients
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| Name | Affiliation | Role |
|---|---|---|
| CICIT805 Garches | APHP/UVSQ | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CICIT805 | Garches | 92380 | France |
All clinician and biologist involved in the follow-up of these patients
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| ID | Term |
|---|---|
| D020388 | Muscular Dystrophy, Duchenne |
| ID | Term |
|---|---|
| D009136 | Muscular Dystrophies |
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
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blood samples
| 11 years |
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |