Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers
Trial Snapshot
- Phase
- Not Applicable
- Status
- Active, not recruiting
- Enrollment
- 80
- Locations
- 2
- Primary Endpoint
- Change of functional scores
Study Overview
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.
Study Design
- Study Type
- Interventional
- Allocation
- Non Randomized
- Intervention Model
- Parallel
- Primary Purpose
- Other
- Masking
- None
Eligibility Criteria
- Ages
- 18 Years to 70 Years (Adult, Older Adult)
- Sex
- All
- Accepts 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
Arms & Interventions
patients with mild CMT 1A disease
Charcot-Marie-Tooth Neuropathy Score between 1 and 10
Intervention: blood samples analysis (Other)
patients with moderate CMT 1A disease
Charcot-Marie-Tooth Neuropathy Score between 11 and 20
Intervention: Muscle MRI (Other)
patients with moderate CMT 1A disease
Charcot-Marie-Tooth Neuropathy Score between 11 and 20
Intervention: blood samples analysis (Other)
patients with moderate CMT 1A disease
Charcot-Marie-Tooth Neuropathy Score between 11 and 20
Intervention: Clinical evaluation (Other)
patients with moderate CMT 1A disease
Charcot-Marie-Tooth Neuropathy Score between 11 and 20
Intervention: electrophysiological record (Other)
patients with severe CMT 1A disease
Charcot-Marie-Tooth Neuropathy Score ≥21
Intervention: Clinical evaluation (Other)
patients with mild CMT 1A disease
Charcot-Marie-Tooth Neuropathy Score between 1 and 10
Intervention: Clinical evaluation (Other)
patients with mild CMT 1A disease
Charcot-Marie-Tooth Neuropathy Score between 1 and 10
Intervention: electrophysiological record (Other)
patients with mild CMT 1A disease
Charcot-Marie-Tooth Neuropathy Score between 1 and 10
Intervention: Muscle MRI (Other)
patients with severe CMT 1A disease
Charcot-Marie-Tooth Neuropathy Score ≥21
Intervention: electrophysiological record (Other)
patients with severe CMT 1A disease
Charcot-Marie-Tooth Neuropathy Score ≥21
Intervention: Muscle MRI (Other)
patients with severe CMT 1A disease
Charcot-Marie-Tooth Neuropathy Score ≥21
Intervention: blood samples analysis (Other)
control group
Healthy volunteers
Intervention: Muscle MRI (Other)
control group
Healthy volunteers
Intervention: blood samples analysis (Other)
Outcomes
Primary Outcomes
Change of functional scores
Time Frame: 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
Time Frame: 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 Outcomes
- Walkin test(12 months and 24 months)