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

NCT04881201 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 47

Last updated 2024-12-13

No results posted yet for this study

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

Interventions

PROCEDURE

blood sample

blood sample

Sponsors & Collaborators

  • University Hospital, Angers

    lead OTHER_GOV

Study Design

Allocation
NON_RANDOMIZED
Purpose
OTHER
Masking
NONE
Model
PARALLEL

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2022-01-05
Primary Completion
2024-06-10
Completion
2024-06-10

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04881201 on ClinicalTrials.gov