MITOMICS : a Multi-OMICS Approach for the Diagnosis of Mitochondrial Diseases

Launched by CENTRE HOSPITALIER UNIVERSITAIRE DE NICE · Jun 4, 2021

Keywords

ClinConnect Summary

The MITOMICS trial is studying how to better diagnose mitochondrial diseases, which affect how our cells produce energy. Specifically, the researchers want to find out which results from a type of test called RNA sequencing (from muscle or skin samples) are the most helpful for understanding genetic variations found in patients suspected of having mitochondrial myopathy. By comparing these RNA results with another test that looks at a person’s entire DNA, they hope to improve the way these conditions are diagnosed.

To participate in this study, patients must have signs of a mitochondrial disease that affects their muscles and have already undergone certain genetic tests. They also need to have muscle and skin samples available, along with blood samples from family members for further analysis. Anyone who joins the trial can expect to contribute to important research that could lead to better diagnosis and understanding of these complex diseases. If you or someone you know is interested, it’s important to discuss this with a healthcare provider who can help determine eligibility and answer any questions.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Patients suspected of a mitochondrial disease with muscular signs (clinical, histological or biochemical)
• • Patients with negative mtDNA and WES NGS in trio
• • Patients with routine muscle and skin biopsies available
• • Blood samples from parents and / or relatives available for segregation studies
• • Informed consent of the study signed by the patient or the legal representatives of the minor patient or under guardianship
• • Patients affiliated to social security
• Exclusion Criteria:
• • Patients with suspected mitochondrial disease without muscle involvement
• • Patients for whom the mtDNA NGS and WES have not been performed
• • Patients with suspected mitochondrial disease with causal variant identified
• • Refusal to sign the informed consent for the study
• • Insufficient amount of frozen material or culture failure for fibroblasts