Metabolomic Exploration of Dysregulated Lipid Metabolism in MFN2-related CMT2A (CMT2A) Linked to Mitofusin 2
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Charcot-Marie-Tooth Disease Type 2A
- Sponsor
- University Hospital, Angers
- Enrollment
- 47
- Locations
- 1
- Primary Endpoint
- Compare the metabolomics and lipidomics of CMT2A patients compared to witnesses using high resolution mass spectrometry
- Status
- Completed
- Last Updated
- last year
Overview
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 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.
Investigators
Eligibility Criteria
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 :
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 :
Outcomes
Primary Outcomes
Compare the metabolomics and lipidomics of CMT2A patients compared to witnesses using high resolution mass spectrometry
Time Frame: at enrollment
We will compare the metabolomics and lipidomics of CMT2A patients compared to controls using high resolution mass spectrometry, by comparing the presence or not of the metabolites sought thanks to thetechnology developed by the company Biocrates (MxP-Quant-500 kit), allowing testing of 630 polar and lipid metabolites, under conditions close to medical biology.