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Completed

NCT Number: NCT01750710

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

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.

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Key information

Conditions

Charcot-Marie-Tooth Type 1A Neuropathy Charcot-Marie-Tooth Disease Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hereditary Sensory and Motor Neuropathy Heredodegenerative Disorders, Nervous System Nervous System Diseases Nervous System Malformations Neurodegenerative Diseases Neuromuscular Diseases Peripheral Nervous System Diseases Polyneuropathies

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

CHU Clermont-Ferrand

Clermont-Ferrand, 63003, France

About this study

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. axonal loss

    Time frame: at day 1

Secondary outcomes

  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

Sponsors and collaborators

Lead sponsor

University Hospital, Clermont-Ferrand

Other

Registry information

Acronym: CCA1

Important dates

Study start
2012
Primary completion
2016
Study completion
2016
First posted
Dec 17, 2012
Registry last updated
Oct 9, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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