Using transcriptomic analysis to diagnose mitochondrial diseases

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.