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

Public Assistance-Hospitals of Marseille (AP-HM)

Status: Enrolling

Conditions: Charcot-Marie-Tooth Disease Type 1A

Treatments: Other: blood samples analysis; Other: Muscle MRI; Other: Clinical evaluation; Other: electrophysiological record

Study type: Interventional

Funder types: Other

Identifiers

NCT02596191

2014-10

Details and patient eligibility

About

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.

Enrollment: 80 estimated patients

Sex: All

Ages: 18 to 70 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

Primary purpose: Other

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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80 participants in 4 patient groups

patients with mild CMT 1A disease

Experimental group

Description:

Charcot-Marie-Tooth Neuropathy Score between 1 and 10

Treatment:

Other: blood samples analysis

Other: electrophysiological record

Other: Clinical evaluation

Other: Muscle MRI

patients with moderate CMT 1A disease

Experimental group

Description:

Charcot-Marie-Tooth Neuropathy Score between 11 and 20

Treatment:

Other: blood samples analysis

Other: electrophysiological record

Other: Clinical evaluation

Other: Muscle MRI

patients with severe CMT 1A disease

Experimental group

Description:

Charcot-Marie-Tooth Neuropathy Score ≥21

Treatment:

Other: blood samples analysis

Other: electrophysiological record

Other: Clinical evaluation

Other: Muscle MRI

control group

Other group

Description:

Healthy volunteers

Treatment:

Other: blood samples analysis

Other: Muscle MRI