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

Charcot-Marie-Tooth Disease Type 1A Clinical Trial

— CMT-TOOLS  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02596191
• Other study ID #: 2014-10
• Status: Recruiting
• Phase: N/A
• Start date: June 6, 2016
• Est. completion date: December 6, 2027

Study information

• Verified date: July 2023
• Source: Assistance Publique Hopitaux De Marseille
• Contact: Shahram ATTARIAN, MD
• Email: shahram.attarian[@]ap-hm.fr
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 80
• Est. completion date: December 6, 2027
• Est. primary completion date: June 6, 2026
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years to 70 Years

Eligibility

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

Related Conditions & MeSH terms

• Charcot-Marie-Tooth Disease
• Charcot-Marie-Tooth Disease Type 1A
• Disease
• Hereditary Sensory and Motor Neuropathy
• Nerve Compression Syndromes
• Tooth Diseases

Intervention

Other:
• Clinical evaluation

• electrophysiological record

• Muscle MRI

• blood samples analysis

Locations

Country	Name	City	State
France	Assistance Publique Hôpitaux de Marseille	Marseille
France	CHU Gui de Chauliac, CHU MONTPELLIER	Montpellier

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique Hopitaux De Marseille

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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
Primary	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
Primary	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	Walkin test	Use of connected soles for walking test (Digitsole)	12 months and 24 months