NCT02596191

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.

Trial Health

75
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
80

participants targeted

Target at P50-P75 for not_applicable

Timeline
19mo left

Started Jun 2016

Longer than P75 for not_applicable

Geographic Reach
1 country

2 active sites

Status
active not recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress86%
Jun 2016Dec 2027

First Submitted

Initial submission to the registry

October 30, 2015

Completed
5 days until next milestone

First Posted

Study publicly available on registry

November 4, 2015

Completed
7 months until next milestone

Study Start

First participant enrolled

June 6, 2016

Completed
10 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 5, 2026

Expected
1.5 years until next milestone

Study Completion

Last participant's last visit for all outcomes

December 5, 2027

Last Updated

June 27, 2025

Status Verified

June 1, 2025

Enrollment Period

10 years

First QC Date

October 30, 2015

Last Update Submit

June 24, 2025

Conditions

Charcot-Marie-Tooth Disease Type 1A

Outcome Measures

Primary Outcomes (4)

  • 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 Outcomes (1)

  • Walkin test

    12 months and 24 months

Study Arms (4)

patients with mild CMT 1A disease

EXPERIMENTAL

Charcot-Marie-Tooth Neuropathy Score between 1 and 10

Other: Clinical evaluationOther: electrophysiological recordOther: Muscle MRIOther: blood samples analysis

patients with moderate CMT 1A disease

EXPERIMENTAL

Charcot-Marie-Tooth Neuropathy Score between 11 and 20

Other: Clinical evaluationOther: electrophysiological recordOther: Muscle MRIOther: blood samples analysis

patients with severe CMT 1A disease

EXPERIMENTAL

Charcot-Marie-Tooth Neuropathy Score ≥21

Other: Clinical evaluationOther: electrophysiological recordOther: Muscle MRIOther: blood samples analysis

control group

OTHER

Healthy volunteers

Other: Muscle MRIOther: blood samples analysis

Interventions

Clinical evaluationOTHER
patients with mild CMT 1A diseasepatients with moderate CMT 1A diseasepatients with severe CMT 1A disease
electrophysiological recordOTHER
patients with mild CMT 1A diseasepatients with moderate CMT 1A diseasepatients with severe CMT 1A disease
Muscle MRIOTHER
control grouppatients with mild CMT 1A diseasepatients with moderate CMT 1A diseasepatients with severe CMT 1A disease
blood samples analysisOTHER
control grouppatients with mild CMT 1A diseasepatients with moderate CMT 1A diseasepatients with severe CMT 1A disease

Eligibility Criteria

Age18 Years - 70 Years
Sexall
Healthy VolunteersYes
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • Patients with CMT 1A disease
  • Diagnosis of CMT 1A confirmed by genotyping (duplication of the 17p11.2 region)

You may not qualify if:

  • 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 alcohol or psychoactive substances abuse
  • Treated by an anti-inflammatory drug over the past four weeks
  • Pregnant or breastfeeding women
  • Homeless patients

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (2)

Assistance Publique Hôpitaux de Marseille

Marseille, 13010, France

Location

CHU Gui de Chauliac, CHU MONTPELLIER

Montpellier, 34285, France

Location

MeSH Terms

Conditions

Charcot-Marie-Tooth Disease

Condition Hierarchy (Ancestors)

Hereditary Sensory and Motor NeuropathyNervous System MalformationsNervous System DiseasesHeredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesPolyneuropathiesPeripheral Nervous System DiseasesNeuromuscular DiseasesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Diseases, Inborn

Study Officials

  • Urielle Desalbres

    Assistance Publique Hôpitaux de Marseille

    STUDY DIRECTOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
OTHER
Intervention Model
PARALLEL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

October 30, 2015

First Posted

November 4, 2015

Study Start

June 6, 2016

Primary Completion (Estimated)

June 5, 2026

Study Completion (Estimated)

December 5, 2027

Last Updated

June 27, 2025

Record last verified: 2025-06

Locations

FR(2)