MITOMICS : a Multi-OMICS Approach for the Diagnosis of Mitochondrial Diseases
Interest of Multi-omics (WES / RNA-Seq) Approach to Fight Against the Diagnostic Deadlock in Mitochondrial Diseases
Centre Hospitalier Universitaire de Nice
66 participants
Mar 7, 2022
OBSERVATIONAL
Conditions
Summary
MITOMICS aims to determine which RNA-Seq results (from muscle or fibroblasts) are the most informative for the interpretation of VUS identified by WES for patients suspected of mitochondrial myopathy. Analysis of RNA-Seq and WES results will performed with a computational approach using an autoencoder-based method
Eligibility
Inclusion Criteria6
- 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 Criteria5
- 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
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Interventions
• Determination of the presence of specific molecular signatures at the RNA level in muscles and fibroblasts from patients
Locations(9)
View Full Details on ClinicalTrials.gov
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NCT04920812