Status:
RECRUITING
MITOMICS : a Multi-OMICS Approach for the Diagnosis of Mitochondrial Diseases
Lead Sponsor:
Centre Hospitalier Universitaire de Nice
Conditions:
Mitochondrial Diseases
Eligibility:
All Genders
Brief 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....
Detailed Description
Mitochondrial diseases (MD) are rare, clinically and genetically extremely heterogeneous, caused by a deficit of energy production via the mitochondria. Mitochondria are dependent on 2 genomes mitocho...
Eligibility Criteria
Inclusion
- 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
- 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
Key Trial Info
Start Date :
March 7 2022
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
September 7 2025
Estimated Enrollment :
66 Patients enrolled
Trial Details
Trial ID
NCT04920812
Start Date
March 7 2022
End Date
September 7 2025
Last Update
February 25 2025
Active Locations (9)
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1
CHU de Nice
Nice, CHU de NICE, France, 06003
2
C.H.R.U. Brest
Brest, France, France
3
Chu de Nantes
Nantes, France, France
4
chu Angers
Angers, France