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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01750710

Acronym

CCA1

Enrollment

Registered

2012-12-17

Start date

2012-12-31

Completion date

2016-04-28

Last updated

2019-10-09

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Charcot-Marie-Tooth Type 1A Neuropathy

Keywords

Charcot-Marie-Tooth disease type 1A neuropathy, Isokinetic, Electromyography, Walking

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

Interventions

None listed

Study design

Observational model

OTHER

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame
axonal loss	at day 1

Secondary

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

Countries

France

Outcome results