Charcot-Marie-Tooth Disease Type 1A
Conditions
Brief summary
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.
Interventions
Sponsors
Assistance Publique Hopitaux De Marseille
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
OTHER
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to 70 Years
Healthy volunteers
Yes
Inclusion criteria
* Patients with CMT 1A disease * Diagnosis of CMT 1A confirmed by genotyping (duplication of the 17p11.2 region)
Exclusion criteria
* Patients suffering from co-morbidity at the origin of peripheral neuropathy (diabetes, hypothyroidism, renal insufficiency, drugs...) or muscle, articular, rheumatological disease * With HIV or cancer * With a significant progressive disease in the previous month * With a contra-indication for MRI * With a dislocation, fracture, or recent surgery (less than 6 months before inclusion) * with alcohol or psychoactive substances abuse * Treated by an anti-inflammatory drug over the past four weeks * Pregnant or breastfeeding women * Homeless patients
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change of functional scores | 3 months, 12 months and 24 months | several functional scores to evaluate the severity and the progression of the disease will be performed and compared (CMTNDS) |
| Change of functional scores at | 3 months, 12 months and 24 months | several functional scores to evaluate the severity and the progression of the disease will be performed and compared (ONLS) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Walkin test | 12 months and 24 months | Use of connected soles for walking test (Digitsole) |
Countries
France
Outcome results
None listed