Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers

Study Overview
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Brief Summary
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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.

Official Title
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Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers

Conditions
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Charcot-Marie-Tooth Disease Type 1A

Intervention / Treatment
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* Other: Clinical evaluation
* Other: electrophysiological record
* Other: Muscle MRI
* Other: blood samples analysis


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 70 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Other
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: patients with mild CMT 1A disease<br>Charcot-Marie-Tooth Neuropathy Score between 1 and 10 | Other: Clinical evaluation<br> <br> Other: electrophysiological record<br> <br> Other: Muscle MRI<br> <br> Other: blood samples analysis<br> <br> |
| Experimental: patients with moderate CMT 1A disease<br>Charcot-Marie-Tooth Neuropathy Score between 11 and 20 | Other: Clinical evaluation<br> <br> Other: electrophysiological record<br> <br> Other: Muscle MRI<br> <br> Other: blood samples analysis<br> <br> |
| Experimental: patients with severe CMT 1A disease<br>Charcot-Marie-Tooth Neuropathy Score ≥21 | Other: Clinical evaluation<br> <br> Other: electrophysiological record<br> <br> Other: Muscle MRI<br> <br> Other: blood samples analysis<br> <br> |
| Other: control group<br>Healthy volunteers | Other: Muscle MRI<br> <br> Other: blood samples analysis<br> <br> |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | 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 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Walkin test | Use of connected soles for walking test (Digitsole) | 12 months and 24 months |