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

NCT ID: NCT02596191

Last Updated: 2025-06-27

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Clinical Phase

NA

Total Enrollment

80 participants

Study Classification

INTERVENTIONAL

Study Start Date

2016-06-06

Study Completion Date

2027-12-05

Brief Summary

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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

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Conditions

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Charcot-Marie-Tooth Disease Type 1A

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

OTHER

Blinding Strategy

NONE

Study Groups

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patients with mild CMT 1A disease

Charcot-Marie-Tooth Neuropathy Score between 1 and 10

Group Type EXPERIMENTAL

Clinical evaluation

Intervention Type OTHER

electrophysiological record

Intervention Type OTHER

Muscle MRI

Intervention Type OTHER

blood samples analysis

Intervention Type OTHER

patients with moderate CMT 1A disease

Charcot-Marie-Tooth Neuropathy Score between 11 and 20

Group Type EXPERIMENTAL

Clinical evaluation

Intervention Type OTHER

electrophysiological record

Intervention Type OTHER

Muscle MRI

Intervention Type OTHER

blood samples analysis

Intervention Type OTHER

patients with severe CMT 1A disease

Charcot-Marie-Tooth Neuropathy Score ≥21

Group Type EXPERIMENTAL

Clinical evaluation

Intervention Type OTHER

electrophysiological record

Intervention Type OTHER

Muscle MRI

Intervention Type OTHER

blood samples analysis

Intervention Type OTHER

control group

Healthy volunteers

Group Type OTHER

Muscle MRI

Intervention Type OTHER

blood samples analysis

Intervention Type OTHER

Interventions

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Clinical evaluation

Intervention Type OTHER

electrophysiological record

Intervention Type OTHER

Muscle MRI

Intervention Type OTHER

blood samples analysis

Intervention Type OTHER

Eligibility Criteria

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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
Minimum Eligible Age

18 Years

Maximum Eligible Age

70 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Assistance Publique Hopitaux De Marseille

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Urielle Desalbres

Role: STUDY_DIRECTOR

Assistance Publique Hôpitaux de Marseille

Locations

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Assistance Publique Hôpitaux de Marseille

Marseille, , France

Site Status

CHU Gui de Chauliac, CHU MONTPELLIER

Montpellier, , France

Site Status

Countries

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France

Other Identifiers

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2014-10

Identifier Type: -

Identifier Source: org_study_id

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