Ignite Creation Date:
2024-05-06 @ 4:15 PM
Last Modification Date:
2024-10-26 @ 2:06 PM
Study NCT ID:
NCT04920812
Status:
RECRUITING
Last Update Posted:
2024-01-12
First Post:
2021-06-04
Brief Title:
MITOMICS a Multi-OMICS Approach for the Diagnosis of Mitochondrial Diseases
Sponsor:
Centre Hospitalier Universitaire de Nice
Organization:
Centre Hospitalier Universitaire de Nice
Study Overview
Official Title:
Interest of Multi-omics WES RNA-Seq Approach to Fight Against the Diagnostic Deadlock in Mitochondrial Diseases
Status:
RECRUITING
Status Verified Date:
2024-01
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
MITOMICS
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
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 mitochondrial DNA and nuclear DNA and many pathogenic variants carried by these 2 genomes are responsible for mitochondrial diseases The diagnostic strategies for MD patients have evolved significantly with the emergence of Next Generation Sequencing NGS also accelerating the identification of the responsible gene However the diagnostic yield remains limited and requires the development of new approaches Previous studies showed that WES and RNA-Seq combination improves the diagnosis of MD essentially by helping in the interpretation of identified VUS
With MITOMICS project we will included 66 patients suspected of a mitochondrial myopathy clinical histological or biochemical with a negative mtDNA and WES NGS in trio For each patient we will sequenced RNA from muscle and fibroblasts Using a new innovative 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 The results obtained will allow the interpretation of VUS and the identification of specific molecular signatures
With MITOMICS project we will included 66 patients suspected of a mitochondrial myopathy clinical histological or biochemical with a negative mtDNA and WES NGS in trio For each patient we will sequenced RNA from muscle and fibroblasts Using a new innovative 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 The results obtained will allow the interpretation of VUS and the identification of specific molecular signatures
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 2020-A02651-38 | REGISTRY | IDRCB | None |