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

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

  • Study Type: Interventional
  • Study Design
    • Allocation: Non-Randomized
    • Intervention Model: Parallel Assignment
    • Primary Purpose: Other
    • Masking: None (Open Label)
  • Study Primary Completion Date: June 6, 2026

Interventions

  • Other: Clinical evaluation
  • Other: electrophysiological record
  • Other: Muscle MRI
  • Other: blood samples analysis

Arms, Groups and Cohorts

  • Experimental: patients with mild CMT 1A disease
    • Charcot-Marie-Tooth Neuropathy Score between 1 and 10
  • Experimental: patients with moderate CMT 1A disease
    • Charcot-Marie-Tooth Neuropathy Score between 11 and 20
  • Experimental: patients with severe CMT 1A disease
    • Charcot-Marie-Tooth Neuropathy Score ≥21
  • Other: control group
    • Healthy volunteers

Clinical Trial Outcome Measures

Primary Measures

  • 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
    • 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 (CMTNS)
  • 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 (CMTNS2)
  • 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 Measures

  • Walkin test
    • Time Frame: 12 months and 24 months
    • Use of connected soles for walking test (Digitsole)

Participating in This Clinical Trial

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

Gender Eligibility: All

Minimum Age: 18 Years

Maximum Age: 70 Years

Are Healthy Volunteers Accepted: Accepts Healthy Volunteers

Investigator Details

  • Lead Sponsor
    • Assistance Publique Hopitaux De Marseille
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Urielle Desalbres, Study Director, Assistance Publique Hôpitaux de Marseille
  • Overall Contact(s)
    • Shahram ATTARIAN, MD, shahram.attarian@ap-hm.fr

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