NCT04881201

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

Metabolomic Exploration of Dysregulated Lipid Metabolism in MFN2-related CMT2A (CMT2A) Linked to Mitofusin 2

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 47 (actual)
• Sponsor: University Hospital, Angers · Other Government
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

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

Type	Name	Description
PROCEDURE	blood sample	blood sample

Timeline

• Start date: 2022-01-05
• Primary completion: 2024-06-10
• Completion: 2024-06-10
• First posted: 2021-05-11
• Last updated: 2024-12-13

Locations

1 site across 1 country: France