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This is a 2-year follow-up study of a cohort of 60 CMT1A patients. The objective is to identify markers allowing to better understand the phenotypic variability observed on patients with CMT1A, to identify predictive markers of the disease's progression and to provide validated measurement tools that can be used as outcome measures in future clinical trials.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| patients with mild CMT 1A disease | Experimental | Charcot-Marie-Tooth Neuropathy Score between 1 and 10 |
|
| patients with moderate CMT 1A disease | Experimental | Charcot-Marie-Tooth Neuropathy Score between 11 and 20 |
|
| patients with severe CMT 1A disease | Experimental | Charcot-Marie-Tooth Neuropathy Score ≥21 |
|
| control group | Other | Healthy volunteers |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Clinical evaluation | Other |
|
| Measure | Description | Time Frame |
|---|---|---|
| Change of functional scores | several functional scores to evaluate the severity and the progression of the disease will be performed and compared (CMTNDS) | 3 months, 12 months and 24 months |
| Change of functional scores | several functional scores to evaluate the severity and the progression of the disease will be performed and compared (CMTNS) | 3 months, 12 months and 24 months |
| Change of functional scores | several functional scores to evaluate the severity and the progression of the disease will be performed and compared (CMTNS2) | 3 months, 12 months and 24 months |
| Change of functional scores at | several functional scores to evaluate the severity and the progression of the disease will be performed and compared (ONLS) | 3 months, 12 months and 24 months |
| Measure | Description | Time Frame |
|---|---|---|
| Walkin test | Use of connected soles for walking test (Digitsole) | 12 months and 24 months |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Urielle Desalbres | Assistance Publique Hôpitaux de Marseille | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Assistance Publique Hôpitaux de Marseille | Marseille | 13010 | France | |||
| CHU Gui de Chauliac, CHU MONTPELLIER |
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| electrophysiological record | Other |
|
| Muscle MRI | Other |
|
| blood samples analysis | Other |
|
| Montpellier |
| 34285 |
| France |
| ID | Term |
|---|---|
| D002607 | Charcot-Marie-Tooth Disease |
| ID | Term |
|---|---|
| D015417 | Hereditary Sensory and Motor Neuropathy |
| D009421 | Nervous System Malformations |
| D009422 | Nervous System Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D011115 | Polyneuropathies |
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
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