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

Not Applicable

Recruiting

• Conditions: Charcot-Marie-Tooth Disease Type 1A
• Interventions: Other: Muscle MRI; Other: Clinical evaluation; Other: electrophysiological record; Other: blood samples analysis

• Registration Number: NCT02596191
• Lead Sponsor: Assistance Publique Hopitaux De Marseille

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2015-10-30
• Study First Submitted QC: 2015-11-03
• Study First Posted: 2015-11-04
• Study Start: 2016-06-06
• Status Verified: 2023-07
• Last Update Submitted: 2023-07-19
• Last Update Posted: 2023-07-20
• Primary Completion: 2026-06-06
• Study Completion: 2027-12-06

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 80

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 & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

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

Primary Outcome Measures

Name	Time	Method
Change of functional scores	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	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 Outcome Measures

Name	Time	Method
Walkin test	12 months and 24 months	Use of connected soles for walking test (Digitsole)

Trial Locations

Locations (2)

Assistance Publique Hôpitaux de Marseille; 🇫🇷 Marseille, France

CHU Gui de Chauliac, CHU MONTPELLIER; 🇫🇷 Montpellier, France