The French network of 11 mitochondrial disease diagnostic laboratories MITODIAG has announced the launch of the COMMI project, which aims to :
- create a cohort of 400 patients with mitochondrial diseases caused by a mutation of a nuclear gene, diagnosed (high-throughput sequencing) by one of the laboratories of the network;
- analyse their genetic and clinical data in order to establish genotype/phenotype correlations and thus improve the interpretation of the results of an increasingly complex molecular diagnosis.
This project complements a study conducted in France about ten years ago on the mitochondrial DNA of 743 people with mitochondriopathies. The patients concerned have received a letter of information on the project and the steps to follow to exercise their right to use their data, in accordance with current European laws.
2023 – Projet COMMI. (in french) Dr Cécile Rouzier, Pr Vincent Procaccio and the entire MitoDiag Network