Status:
COMPLETED
Metabolomic Exploration of Dysregulated Lipid Metabolism in MFN2-related CMT2A (MetaDLM_CMT2A)
Lead Sponsor:
University Hospital, Angers
Conditions:
Charcot-Marie-Tooth Disease Type 2A
Eligibility:
All Genders
18+ years
Phase:
NA
Brief Summary
Charcot-Marie-Tooth (CMT) disease is the commonest sensitivo-motor inherited peripheral neuropathies with a prevalence of about 10-30 per 100,000. To date, more than 80 genes have been found responsib...
Eligibility Criteria
Inclusion
- For all participants :
- Adult person
- Person on an empty stomach at the time of inclusion
- Person who signed the study participation consent form
- Person affiliated or beneficiary of a social security scheme
- Patients Charcot-Marie-Tooth :
- Patient with symptoms of Charcot-Marie-Tooth disease on clinical examination clinical examination
- Patient with axonal neuropathy confirmed by an electrophysiological study electrophysiological study with a median nerve conduction velocity \> 38 m / s
- Patient with documented pathogenic mutation (class 4 or class 5) in the MFN2 or patient with a variant of uncertain significance, as determined by the laboratory performing the test, if the variant of unknown significance has been found in found in multiple affected individuals in a family and not found in unaffected family members in unaffected family members.
- Control subject :
- Each control is matched in age and sex to a case previously included in the study.
Exclusion
- For all participants :
- Pregnant, breastfeeding or parturient woman
- Person deprived of liberty by judicial or administrative decision
- Person subject to forced psychiatric care
- Person subject to a legal protection measure
- Person unable to give consent
- Patients Charcot-Marie-Tooth :
- Patient with a neuropathy other than CMT2A (such as diabetic neuropathy or any other cause of acquired neuropathy) neuropathy or any other cause of acquired neuropathy), medical history of kidney stones kidney stones or cardiovascular risk factors (dyslipidaemia diabetes, severe obesity (BMI \>35 kg/m²))
- Patient treated with Idebenone at the time of inclusion. (It is possible to include a patient treated with Idebenone if the treatment was interrupted at least 5 days before)
- Control subject :
- Person with neuropathy, medical history of kidney stones or cardiovascular risk factors cardiovascular risk factors (dyslipidaemia, diabetes, severe obesity (BMI \>35 kg/m²))
Key Trial Info
Start Date :
January 5 2022
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
June 10 2024
Estimated Enrollment :
47 Patients enrolled
Trial Details
Trial ID
NCT04881201
Start Date
January 5 2022
End Date
June 10 2024
Last Update
December 13 2024
Active Locations (1)
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1
CHU
Angers, maine et loire, France, 49933