MITOMICS : a Multi-OMICS Approach for the Diagnosis of Mitochondrial Diseases
MITOMICS
Interest of Multi-omics (WES / RNA-Seq) Approach to Fight Against the Diagnostic Deadlock in Mitochondrial Diseases
2 other identifiers
observational
66
1 country
9
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. Analysis of RNA-Seq and WES results will performed with a computational approach using an autoencoder-based method
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for all trials
Started Mar 2022
Typical duration for all trials
9 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
June 4, 2021
CompletedFirst Posted
Study publicly available on registry
June 10, 2021
CompletedStudy Start
First participant enrolled
March 7, 2022
CompletedPrimary Completion
Last participant's last visit for primary outcome
March 7, 2022
CompletedStudy Completion
Last participant's last visit for all outcomes
September 7, 2025
CompletedFebruary 25, 2025
February 1, 2025
Same day
June 4, 2021
February 21, 2025
Conditions
Outcome Measures
Primary Outcomes (1)
number of variations interpreted as responsible for the Mitochondrial diseases
• 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
baseline
Secondary Outcomes (3)
RNA in mitochondiral deseases
baseline
variation of RNA in mitochondiral deseases
baseline
specific molecular signatures of mitochondiral deseases
baseline
Study Arms (1)
Mitochondrial diseases
annalysing with methology of multi-OMICS integration we will determined which RNA-Seq data (from muscle or fibroblasts) are the most informative for the interpretation of VUS identified by WES for patients suspected of mitochondrial myopathy.
Interventions
• Determination of the presence of specific molecular signatures at the RNA level in muscles and fibroblasts from patients
Eligibility Criteria
Patients are seen in consultation by the genetic doctors of the different centers as part of the usual management of their mitochondrial disease.
You may qualify if:
- 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 may not qualify if:
- 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
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (9)
CHU de Nice
Nice, CHU de NICE, 06003, France
C.H.R.U. Brest
Brest, France, France
Chu de Nantes
Nantes, France, France
chu Angers
Angers, France
Chu Brest
Brest, France
APHM
Marseille, France
APHM
Marseille, France
Chu Montpellier
Montpellier, France
CHU Nantes
Nantes, France
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
SYLVIE BANNWARTH
Centre Hospitalier Universitaire de Nice
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- OTHER
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
June 4, 2021
First Posted
June 10, 2021
Study Start
March 7, 2022
Primary Completion
March 7, 2022
Study Completion
September 7, 2025
Last Updated
February 25, 2025
Record last verified: 2025-02
Data Sharing
- IPD Sharing
- Will not share