Using transcriptomic analysis to diagnose mitochondrial diseases
Combating the Diagnostic Impasse in Mitochondrial Diseases: a Transcriptomic Approach in Fibroblasts and Blood Cells
This study is testing a new way to diagnose mitochondrial diseases by looking at gene activity in patients' cells to help those who haven't been diagnosed yet.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 10 (estimated) |
| Sex | All |
| Sponsor | Centre Hospitalier Universitaire de Nice Academic / other |
| Locations | 2 sites (Nice, Alpes-maritimes and 1 other locations) |
| Trial ID | NCT06621732 on ClinicalTrials.gov |
What this trial studies
This study aims to improve the genetic diagnosis of mitochondrial diseases by utilizing transcriptomic analysis through RNA sequencing of fibroblasts and blood cells. It targets patients who have suspected mitochondrial diseases but remain undiagnosed due to variants of uncertain significance. By analyzing gene expression and RNA splicing, the study seeks to identify pathogenic variants that may not be detectable through traditional genetic testing methods. The approach is designed to enhance diagnostic yields and provide clearer insights into the genetic underpinnings of these conditions.
Who should consider this trial
Good fit: Ideal candidates include patients of all ages with suspected mitochondrial diseases who have identified variants of uncertain significance.
Not a fit: Patients whose variants are already included in the study or those unable to provide informed consent may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to more accurate diagnoses for patients with mitochondrial diseases, potentially guiding better treatment options.
How similar studies have performed: Previous studies using transcriptomic approaches have shown diagnostic yields of 10% to 35%, indicating potential success for this methodology.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: General criteria: major or minor patients, sporadic or isolated cases * Pathology-related criteria : * Patients with suspected mitochondrial disease according to Morava criteria * Identification of a predicted VSI, "possibly pathogenic" by SPICE and/or SpliceAI biοstatistical and biοinfοrmatic prediction tools, in a gene : * Compatible with the patient's phenotype * With sufficient expression in blood (TPM\>1, GTEX) predicted as "possibly pathogenic" by SPICE and/or SpliceAI biοstatistical and biοinfοrmatic prediction tools. * Signature of informed consent, for minor patients signature of at least one of the 2 parents or the representative of parental authority Exclusion Criteria: * Patient whose identified VSI is in the same gene as a patient already included in the study; * Persons deprived of liberty by judicial or administrative decision; * Persons hospitalized without consent; * Persons of full age or minors under legal protection or unable to express their consent; * Inability of the subject to cooperate.
Where this trial is running
Nice, Alpes-maritimes and 1 other locations
- CHU de NIce — Nice, Alpes-maritimes, France (Recruiting)
- CHU de Montpellier — Montpellier, France (Recruiting)
Study contacts
- Study coordinator: Cecile ROUZIER, PU
- Email: rouzier.c@chu-nice.fr
- Phone: +0033492036243
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.