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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 recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified December 2012 by University Hospital, Clermont-Ferrand.
Recruitment status was:  Not yet recruiting
Information provided by (Responsible Party):
University Hospital, Clermont-Ferrand Identifier:
First received: November 16, 2012
Last updated: December 13, 2012
Last verified: December 2012
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.

Charcot-Marie-Tooth Type 1A Neuropathy

Study Type: Observational
Study Design: 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

Resource links provided by NLM:

Further study details as provided by University Hospital, Clermont-Ferrand:

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

Secondary Outcome Measures:
  • Muscle strength [ Time Frame: at day 1 ]
  • Functional scores [ Time Frame: at day 1 ]
  • Hand testing [ Time Frame: at day 1 ]
  • spatial and temporal parameters of walking [ Time Frame: at day 1 ]
  • Barometric stabilometric podo-static scores [ Time Frame: at day 1 ]
  • Quality of life [ Time Frame: at day 1 ]
  • Fatigue [ Time Frame: at day 1 ]
  • Depression [ Time Frame: at day 1 ]

Estimated Enrollment: 60
Study Start Date: December 2012
Estimated Study Completion Date: December 2013
Estimated Primary Completion Date: October 2013 (Final data collection date for primary outcome measure)
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

Ages Eligible for Study:   18 Years and older   (Adult, Senior)
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
  Contacts and Locations
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Please refer to this study by its identifier: NCT01750710

Contact: Patrick LACARIN 04 73 75 11 95

CHU Clermont-Ferrand Not yet recruiting
Clermont-Ferrand, France, 63003
Contact: Patrick LACARIN    04 73 75 11 95   
Sponsors and Collaborators
University Hospital, Clermont-Ferrand
Principal Investigator: Emmanuel COUDEYRE University Hospital, Clermont-Ferrand
  More Information

Responsible Party: University Hospital, Clermont-Ferrand Identifier: NCT01750710     History of Changes
Other Study ID Numbers: CHU-0128
Study First Received: November 16, 2012
Last Updated: December 13, 2012

Keywords provided by University Hospital, Clermont-Ferrand:
Charcot-Marie-Tooth disease type 1A neuropathy

Additional relevant MeSH terms:
Peripheral Nervous System Diseases
Charcot-Marie-Tooth Disease
Nerve Compression Syndromes
Hereditary Sensory and Motor Neuropathy
Tooth Diseases
Neuromuscular Diseases
Nervous System Diseases
Nervous System Malformations
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Congenital Abnormalities
Genetic Diseases, Inborn
Stomatognathic Diseases processed this record on May 25, 2017