Actively Recruiting
MITOMICS : a Multi-OMICS Approach for the Diagnosis of Mitochondrial Diseases
Led by Centre Hospitalier Universitaire de Nice · Updated on 2025-02-25
66
Participants Needed
9
Research Sites
182 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
MITOMICS : a Multi-OMICS Approach for the Diagnosis of Mitochondrial Diseases
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 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
You will not qualify if you...
- 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
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 9 locations
1
CHU de Nice
Nice, CHU de NICE, France, 06003
Actively Recruiting
2
C.H.R.U. Brest
Brest, France, France
Not Yet Recruiting
3
Chu de Nantes
Nantes, France, France
Actively Recruiting
4
chu Angers
Angers, France
Actively Recruiting
5
Chu Brest
Brest, France
Not Yet Recruiting
6
APHM
Marseille, France
Actively Recruiting
7
APHM
Marseille, France
Actively Recruiting
8
Chu Montpellier
Montpellier, France
Actively Recruiting
9
CHU Nantes
Nantes, France
Not Yet Recruiting
Research Team
S
SYLVIE BANNWARTH
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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