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Clinical Trials in France / NCT04920812
Recruiting Observational

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

NCT04920812 · tracked via the Priya Life Science France tracker
Sponsor
Centre Hospitalier Universitaire de Nice
Phase
Observational
Started
2022-03-07
Last updated
2025-02-25

Condition(s) studied

Mitochondrial Diseases

Investigational drug(s) / intervention(s)

diagnosis of mitochondrial myopathy

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

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

Eligibility

Sex
ALL
Min age
—
Max age
—
Healthy volunteers
No
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

Primary outcome measure(s)

  • number of variations interpreted as responsible for the Mitochondrial diseases — baseline
    • Comparison of the number of variations (splicing variant, expression level) or VUS, identified in WES, interpreted as responsible for the disease (class 4 or 5 variants) thanks to the RNA-Seq carried out at from a muscle biopsy or RNA-Seq performed from fibroblasts

Trial sites (9)

FacilityCityRegionStatus
CHU de Nice Nice CHU de NICE Recruiting
C.H.R.U. Brest Brest France Not Yet Recruiting
Chu de Nantes Nantes France Recruiting
chu Angers Angers France Recruiting
Chu Brest Brest France Not Yet Recruiting
APHM Marseille France Recruiting
APHM Marseille France Recruiting
Chu Montpellier Montpellier France Recruiting
CHU Nantes Nantes France Not Yet Recruiting

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Home Based Personalized Training and Video Consultation in Mitochondrial Myopathies: Study of Efficacy and Tolerance. Recruiting

Other trials for the same condition

KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases Recruiting
Open Label Extension to Assess Long Term Safety and Efficacy of KL1333 in Patients With Primary Mitochondrial Disease Recruiting
Combating the Diagnostic Impasse in Mitochondrial Diseases: a Transcriptomic Approach in Fibroblasts and Blood Cells Recruiting
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT04920812 on ClinicalTrials.gov ↗ ← All trials in France