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

NCT04881201 | Completed

• 1 other identifier: 2021-A00834-34
• Study Type: interventional
• Target: 47
• Locations: 1 country
• Sites: 1

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.

Conditions

Charcot-Marie-Tooth Disease Type 2A

Outcome Measures

Primary Outcomes (1)

• Compare the metabolomics and lipidomics of CMT2A patients compared to witnesses using high resolution mass spectrometry

  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.

  at enrollment

Study Arms (2)

Patients Charcot-Marie-Tooth

OTHER

Procedure: blood sample

Control subjects

OTHER

Procedure: blood sample

Interventions

blood sample PROCEDURE

blood sample

Control subjects; Patients Charcot-Marie-Tooth

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• For all participants :
• Adult person
• 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.

You may not qualify if:

• 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))
• 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))

Sponsors & Collaborators

• University Hospital, Angers: lead

Study Sites (1)

CHU

Angers, maine et loire, 49933, France

Location

MeSH Terms

Conditions

Charcot-Marie-Tooth disease, Type 2A

Interventions

Blood Specimen Collection

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: OTHER
• Intervention Model: PARALLEL
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 27, 2021
• First Posted: May 11, 2021
• Study Start: January 5, 2022
• Primary Completion: June 10, 2024
• Study Completion: June 10, 2024
• Last Updated: December 13, 2024

Record last verified: 2024-12

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)