Clinical trial NCT01750710: Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A
Official title: Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Charcot-Marie-Tooth Type 1A Neuropathy
Keywords: Charcot-Marie-Tooth disease type 1A neuropathy
Isokinetic
Electromyography
Walking
Lead sponsor: University Hospital, Clermont-Ferrand
Sponsor class: OTHER
First posted: 2012-12-17
Enrollment: 37
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: CROSS_SECTIONAL
Sampling method: PROBABILITY_SAMPLE
Study population: Patients suffering from CMT 1A neuropathy

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

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

Primary outcomes:
measure: axonal loss
timeFrame: at day 1
Secondary outcomes:
measure: Muscle strength
timeFrame: at day 1
measure: Functional scores
timeFrame: at day 1
measure: Hand testing
timeFrame: at day 1
measure: spatial and temporal parameters of walking
timeFrame: at day 1
measure: Barometric stabilometric podo-static scores
timeFrame: at day 1
measure: Quality of life
timeFrame: at day 1
measure: Fatigue
timeFrame: at day 1
measure: Depression
timeFrame: at day 1
Other outcomes:
Locations:
city: Clermont-Ferrand
country: France
facility: CHU Clermont-Ferrand
Study officials:
affiliation: University Hospital, Clermont-Ferrand
name: Emmanuel COUDEYRE
role: PRINCIPAL_INVESTIGATOR
References:
citation: Bihel L, Reynaud V, Givron P, Clavelou P, Cornut-Chauvinc C, Pereira B, Thomas E, Taithe F, Coudeyre E. Foot Function Index: A Promising Questionnaire for Individuals With Charcot-Marie-Tooth Disease Type 1A. Arch Phys Med Rehabil. 2019 Dec;100(12):2403-2406. doi: 10.1016/j.apmr.2019.06.003. Epub 2019 Jun 28.