Metabolomic Exploration of Dysregulated Lipid Metabolism in MFN2-related CMT2A (MetaDLM_CMT2A)

University Hospital, Angers

Status

Completed

Conditions

Charcot-Marie-Tooth Disease Type 2A

Treatments

Procedure: blood sample

Study type

Interventional

Funder types

Other

Identifiers

NCT04881201

2021-A00834-34

Details and patient eligibility

About

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 responsible for CMT. Some of these genes code for mitochondrial proteins such as mitofusin 2 (MFN2).

In the last few years, our laboratory has developed strong expertise in metabolomics. The MetaDLM_CMT2A project proposes to produce metabolomic and lipidomic maps in CMT2A plasma from a cohort of genetically and clinically characterized patients with a national recruitment.

In the perspective of future clinical trials, these biomarkers and the better understanding of lipid metabolism defects in CMT2A would be of major interest in monitoring the evolution of the disease and developing specific therapeutic approaches.

Enrollment

47 patients

Sex

All

Ages

18+ years old

Volunteers

Accepts Healthy Volunteers

Inclusion criteria

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 criteria

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))