Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A

Completed

• Conditions: Charcot-Marie-Tooth Type 1A Neuropathy

• Registration Number: NCT01750710
• Lead Sponsor: University Hospital, Clermont-Ferrand

Brief Summary

This exploratory cross-sectional study proposes, firstly, to objectify in a population of Charcot-Marie-Tooth disease type 1A (CMT 1A)if there is a correlation between the recording of electrical parameters and upper limb muscle strength of the thigh and in a second step, to seek a relationship between the measured parameters.

Detailed Description

Patients suffering from CMT 1A neuropathy will be invited to go through a series of tests such as:

* Electromyography

* Isokinetic test

* Podiatric assessment

* Functional evaluations: Hand dexterity, limbs muscles strength

* Quality of life assessment with questionnaires

Study Timeline

• Study First Submitted: 2012-11-16
• Study Start: 2012-12
• Study First Submitted QC: 2012-12-13
• Study First Posted: 2012-12-17
• Primary Completion: 2016-04-28
• Study Completion: 2016-04-28
• Status Verified: 2019-10
• Last Update Submitted: 2019-10-08
• Last Update Posted: 2019-10-09

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 37

Inclusion Criteria

• Patients older than 18 years
• Diagnosis of Charcot Marie Tooth disease, type 1A confirmed by molecular biology (duplication 17.p11.2)
• Listening and written French
• Agreement after written information, clear and honest about the purpose of the study, the nature of the tests and their possible side effects or bothersome.
• Strength of the quadriceps superior to 2/5 MMT MRC

Exclusion Criteria

• Presence of other neurological comorbidity
• Presence of coronary artery disease unstabilized
• Peripheral neuropathy of other causes: diabetes, monoclonal gammopathy, malignancy, solid cancer, systemic autoimmune disease (lupus, Sjögren's disease, Wegener sarcoidosis ...), infectious disease (viral hepatitis, HIV ...), drugs known to be responsible for iatrogenic neuropathy.
• Gait trouble of other origin
• Patients unable to give their consent.
• Intellectual deficit that does not allow to comply with tests

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
axonal loss	at day 1

Secondary Outcome Measures

Name	Time	Method
Hand testing	at day 1
Depression	at day 1
spatial and temporal parameters of walking	at day 1
Barometric stabilometric podo-static scores	at day 1
Quality of life	at day 1
Muscle strength	at day 1
Functional scores	at day 1
Fatigue	at day 1

Trial Locations

Locations (1)

CHU Clermont-Ferrand; 🇫🇷 Clermont-Ferrand, France