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

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 Overview

• Status: Active, not recruiting
• Conditions: Charcot-Marie-Tooth Disease Type 1A
• Intervention / Treatment: Other: Clinical evaluation; Other: electrophysiological record; Other: Muscle MRI; Other: blood samples analysis

• Study Type: Interventional
• Enrollment (Estimated): 80
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Marseille, France, 13010
    • Assistance Publique Hopitaux de Marseille
  • Montpellier, France, 34285
    • CHU Gui de Chauliac, CHU MONTPELLIER

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 70 years (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Other
• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

4

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: patients with mild CMT 1A disease; Charcot-Marie-Tooth Neuropathy Score between 1 and 10	Other: Clinical evaluation; Other: electrophysiological record; Other: Muscle MRI; Other: blood samples analysis
Experimental: patients with moderate CMT 1A disease; Charcot-Marie-Tooth Neuropathy Score between 11 and 20	Other: Clinical evaluation; Other: electrophysiological record; Other: Muscle MRI; Other: blood samples analysis
Experimental: patients with severe CMT 1A disease; Charcot-Marie-Tooth Neuropathy Score ≥21	Other: Clinical evaluation; Other: electrophysiological record; Other: Muscle MRI; Other: blood samples analysis
Other: control group; Healthy volunteers	Other: Muscle MRI; Other: blood samples analysis

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change of functional scores	several functional scores to evaluate the severity and the progression of the disease will be performed and compared (CMTNDS)	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)	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)	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)	3 months, 12 months and 24 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Walkin test	Use of connected soles for walking test (Digitsole)	12 months and 24 months

Collaborators and Investigators

• Sponsor: Assistance Publique Hopitaux De Marseille
• Investigators: Study Director: Urielle DESALBRES, Assistance Publique Hopitaux de Marseille

Study record dates

Study Major Dates

• Study Start (Actual): June 6, 2016
• Primary Completion (Estimated): June 5, 2026
• Study Completion (Estimated): December 5, 2027

Study Registration Dates

• First Submitted: October 30, 2015
• First Submitted That Met QC Criteria: November 3, 2015
• First Posted (Estimated): November 4, 2015

Study Record Updates

• Last Update Posted (Actual): June 27, 2025
• Last Update Submitted That Met QC Criteria: June 24, 2025
• Last Verified: June 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Stomatognathic Diseases; Nervous System Diseases; Pathologic Processes; Neuromuscular Diseases; Genetic Diseases, Inborn; Peripheral Nervous System Diseases; Neurodegenerative Diseases; Congenital Abnormalities; Heredodegenerative Disorders, Nervous System; Nervous System Malformations; Polyneuropathies; Disease; Tooth Diseases; Charcot-Marie-Tooth Disease; Nerve Compression Syndromes; Hereditary Sensory and Motor Neuropathy
• Other Study ID Numbers: 2014-10