Skip to main content
OpenTrials
Active, Not Recruiting

NCT Number: NCT02596191

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Charcot-Marie-Tooth Disease Type 1A Charcot-Marie-Tooth Disease Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hereditary Sensory and Motor Neuropathy Heredodegenerative Disorders, Nervous System Nervous System Diseases Nervous System Malformations Neurodegenerative Diseases Neuromuscular Diseases Peripheral Nervous System Diseases Polyneuropathies

Age range

18 year–70 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Assistance Publique Hôpitaux de Marseille, Marseille, France

Loading trial locations.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Clinical evaluation

Other

electrophysiological record

Other

Muscle MRI

Other

blood samples analysis

Other

Primary outcomes

  1. 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)

  2. 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)

  3. 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)

  4. 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

  1. Walkin test

    Time frame: 12 months and 24 months

    Use of connected soles for walking test (Digitsole)

Sponsors and collaborators

Lead sponsor

Assistance Publique Hopitaux De Marseille

Other

Registry information

Acronym: CMT-TOOLS

Important dates

Study start
2016
Primary completion
2026
Study completion
2027
First posted
Nov 4, 2015
Registry last updated
Jun 27, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.