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

Charcot-Marie-Tooth Disease Type 2A Clinical Trial

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

Status Recruiting

Clinical Trial 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.

Clinical Trial Description

n/a

Related Conditions & MeSH terms

• Charcot-Marie-Tooth Disease
• Charcot-Marie-Tooth Disease Type 2A
• Hereditary Sensory and Motor Neuropathy
• Nerve Compression Syndromes
• Tooth Diseases

• NCT number: NCT04881201
• Study type: Interventional
• Source: University Hospital, Angers
• Contact: Julien Cassereau, MD
• Phone: 0033 2 41 35 79 33
• Email: JuCassereau@chu-angers.fr
• Status: Recruiting
• Phase: N/A
• Start date: January 5, 2022
• Completion date: July 5, 2024