NCT01750710
Completed
Not Applicable
Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A
University Hospital, Clermont-Ferrand1 site in 1 country37 target enrollmentDecember 2012
ConditionsCharcot-Marie-Tooth Type 1A Neuropathy
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Charcot-Marie-Tooth Type 1A Neuropathy
- Sponsor
- University Hospital, Clermont-Ferrand
- Enrollment
- 37
- Locations
- 1
- Primary Endpoint
- axonal loss
- Status
- Completed
- Last Updated
- 6 years ago
Overview
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
Investigators
Eligibility Criteria
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
Outcomes
Primary Outcomes
axonal loss
Time Frame: at day 1
Secondary Outcomes
- 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)
- Hand testing(at day 1)
- Fatigue(at day 1)
Study Sites (1)
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