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

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

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.

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