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

N/AActive Not RecruitingNCT02596191

Assistance Publique Hopitaux De Marseille80 enrolled

Overview

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 Type

INTERVENTIONAL

Allocation

NON_RANDOMIZED

Purpose

OTHER

Masking

NONE

Enrollment

Conditions

Charcot-Marie-Tooth Disease Type 1A

Interventions

Clinical evaluationOTHER

electrophysiological recordOTHER

Muscle MRIOTHER

blood samples analysisOTHER

Eligibility

Sex: ALLMin age: 18 YearsMax age: 70 YearsHealthy volunteers:

Medical Language ↔ Plain English

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

Locations (2)

Assistance Publique Hôpitaux de Marseille

Marseille, France

CHU Gui de Chauliac, CHU MONTPELLIER

Montpellier, France

Outcomes

Primary Outcomes

Change of functional scores

several functional scores to evaluate the severity and the progression of the disease will be performed and compared (CMTNDS)

Time frame: 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)

Time frame: 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)

Time frame: 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)

Time frame: 3 months, 12 months and 24 months

Secondary Outcomes

Walkin test

Use of connected soles for walking test (Digitsole)

Time frame: 12 months and 24 months

Data from ClinicalTrials.gov

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