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

• ClinicalTrials.gov Identifier: NCT01750710
• Recruitment Status: Completed
• First Posted: December 17, 2012
• Last Update Posted: October 9, 2019
• Sponsor: University Hospital, Clermont-Ferrand
• Information provided by (Responsible Party): University Hospital, Clermont-Ferrand

Study Description

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

Study Design

• 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

Groups and Cohorts

Outcome Measures

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 ]

Eligibility Criteria

• 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

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

Contacts and Locations

Locations

France

CHU Clermont-Ferrand

Clermont-Ferrand, France, 63003

Sponsors and Collaborators

University Hospital, Clermont-Ferrand

Investigators

• Principal Investigator: Emmanuel COUDEYRE; University Hospital, Clermont-Ferrand

More Information

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

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.

• Responsible Party: University Hospital, Clermont-Ferrand
• ClinicalTrials.gov Identifier: NCT01750710
• Other Study ID Numbers: CHU-0128
• First Posted: December 17, 2012
• Last Update Posted: October 9, 2019
• Last Verified: October 2019

Keywords provided by University Hospital, Clermont-Ferrand:

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

Additional relevant MeSH terms:

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; Polyneuropathies; Congenital Abnormalities; Genetic Diseases, Inborn