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

NCT04920812 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 66

Last updated 2025-02-25

No results posted yet for this study

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

Conditions

  • Mitochondrial Diseases

Interventions

GENETIC

diagnosis of mitochondrial myopathy

• Determination of the presence of specific molecular signatures at the RNA level in muscles and fibroblasts from patients

Sponsors & Collaborators

  • Centre Hospitalier Universitaire de Nice

    lead OTHER

Principal Investigators

  • SYLVIE BANNWARTH · Centre Hospitalier Universitaire de Nice

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-03-07
Primary Completion
2022-03-07
Completion
2025-09-07

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04920812 on ClinicalTrials.gov