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The aim of this study is to improve knowledge of natural history and methods of monitoring the evolution of Glycogen storage disease type III regarding the muscle and to study the prospective approach of large series of patients, and using the same protocol for the follow up of the children and adults.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Different motor function tests | Procedure | Time to rise from a chair, time to go from lying to sitting, time to go from lying to standing, time to cover 10 meters, time to climb 4 steps | ||
| Manual dexterity assessment | Procedure | Purdue pegboard test |
| Measure | Description | Time Frame |
|---|---|---|
| Knee flexion and extension strength | at baseline | |
| Knee flexion and extension strength | 2 years after baseline | |
| Knee flexion and extension strength | 4 years after baseline | |
| Time to perform each motor function test | at baseline | |
| Time to perform each motor function test | 2 years after baseline | |
| Time to perform each motor function test | 4 years after baseline | |
| Gait speed measured during the 6 minutes walk test | at baseline | |
| Gait speed measured during the 6 minutes walk test | 2 years after baseline | |
| Gait speed measured during the 6 minutes walk test | 4 years after baseline |
| Measure | Description | Time Frame |
|---|---|---|
| Accelerometric variables measured for the 6 minutes walk test | At baseline | |
| Accelerometric variables measured for the 6 minutes walk test | 2 years after baseline | |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Pascal Laforet, MD | Contact | 00 331 42 16 37 75 | pascal.laforet@psl.aphp.fr | |
| Pierre Carlier, MD, PhD | Contact | p.carlier@institut-myologie.org |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Institut de Myologie | Recruiting | Paris | France |
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| ID | Term |
|---|---|
| D009468 | Neuromuscular Diseases |
| D006010 | Glycogen Storage Disease Type III |
| D006008 | Glycogen Storage Disease |
| ID | Term |
|---|---|
| D009422 | Nervous System Diseases |
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
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| Accelerometric variables measured for the 6 minutes walk test |
| 4 years after baseline |
| NMR variables measured during each specific NMR sequence | at baseline |
| NMR variables measured during each specific NMR sequence | 2 years after baseline |
| NMR variables measured during each specific NMR sequence | 4 years after baseline |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |