MITOMICS : a Multi-OMICS Approach for the Diagnosis of Mitochondrial Diseases
Recruiting
Observational Study
Mitochondrial Diseases
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 66 (estimated)
- Sponsor
- Centre Hospitalier Universitaire de Nice · Other
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About This Trial
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
Trial Locations
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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…
Contacts