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Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A (CCA1)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01750710
Recruitment Status : Completed
First Posted : December 17, 2012
Last Update Posted : October 9, 2019
Information provided by (Responsible Party):
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.

Condition or disease
Charcot-Marie-Tooth Type 1A Neuropathy

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

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Study Type : Observational
Actual Enrollment : 37 participants
Observational Model: Other
Time Perspective: Cross-Sectional
Official Title: Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A
Actual Study Start Date : December 2012
Actual Primary Completion Date : April 28, 2016
Actual Study Completion Date : April 28, 2016

Primary Outcome Measures :
  1. axonal loss [ Time Frame: at day 1 ]

Secondary Outcome Measures :
  1. Muscle strength [ Time Frame: at day 1 ]
  2. Functional scores [ Time Frame: at day 1 ]
  3. Hand testing [ Time Frame: at day 1 ]
  4. spatial and temporal parameters of walking [ Time Frame: at day 1 ]
  5. Barometric stabilometric podo-static scores [ Time Frame: at day 1 ]
  6. Quality of life [ Time Frame: at day 1 ]
  7. Fatigue [ Time Frame: at day 1 ]
  8. Depression [ Time Frame: at day 1 ]

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients suffering from CMT 1A neuropathy

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01750710

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CHU Clermont-Ferrand
Clermont-Ferrand, France, 63003
Sponsors and Collaborators
University Hospital, Clermont-Ferrand
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Principal Investigator: Emmanuel COUDEYRE University Hospital, Clermont-Ferrand
Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: University Hospital, Clermont-Ferrand Identifier: NCT01750710    
Other Study ID Numbers: CHU-0128
First Posted: December 17, 2012    Key Record Dates
Last Update Posted: October 9, 2019
Last Verified: October 2019
Keywords provided by University Hospital, Clermont-Ferrand:
Charcot-Marie-Tooth disease type 1A neuropathy
Additional relevant MeSH terms:
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Tooth Diseases
Peripheral Nervous System Diseases
Charcot-Marie-Tooth Disease
Nerve Compression Syndromes
Hereditary Sensory and Motor Neuropathy
Neuromuscular Diseases
Nervous System Diseases
Stomatognathic Diseases
Nervous System Malformations
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Congenital Abnormalities
Genetic Diseases, Inborn