The main criteria for participation
The Mitomics study is recruiting 66 participants in France, of all ages, for whom clinical, histological, and biochemical analyses suggest mitochondrial disease with muscle involvement. They do not have mutations in mitochondrial DNA, but analysis of the whole exome (i.e., all coding sequences in the genome) of the patients and their parents and/or relatives has not identified the causative mutation. Finally, muscle and skin biopsies of the patients, and blood samples of relatives are available.
The objective
The study aims to determine whether large-scale RNA sequencing (RNA-seq) analysis of muscle biopsies or fibroblasts (skin support cells) is most informative in determining whether a genetic variant identified from whole exome sequencing (WES) is pathogenic or not. These multi-omic data – RNA-seq and WES – will be integrated using a computational approach to improve the diagnosis of mitochondrial diseases.
In practice
The study will last three and a half years. Each participant will be seen Par the geneticist at the research center as part of the usual monitoring of their mitochondrial disease.
The study is being conducted in five research centers, in Angers, Brest, Marseille, Nantes and Nice.
Where are we?
Recruitment is underway.
Contact :
Sylvie Bannwarth (Nice University Hospital)
Tel. : 04 92 03 47 02