🌐 EnglishEN

AI Cure is a research tool showing open data. Not medical advice. Discuss with your doctor. Terms

← Trials
🧪

Combating the Diagnostic Impasse in Mitochondrial Diseases: a Transcriptomic Approach in Fibroblasts and Blood Cells

RecruitingNAAges any - anyAllCentre Hospitalier Universitaire de Nice
NCT06621732 on ClinicalTrials.gov ↗
💬

In plain words

What the trial is, and whether it could suit you

Next-generation sequencing (NGS), and in particular whole exome sequencing (WES) or genome sequencing (WGS), has enabled a significant technical advance that has considerably improved genetic diagnostics. However, around 50% of patients still remain undiagnosed and are in diagnostic limbo. One of the causes of this is pathogenic variants that modify transcript expression and/or RNA splicing. These variants may be located in deep intronic or intergenic regions, or in the coding sequence, synonymous or missense variants, also having pathogenic consequences on splicing or gene expression. It is very often difficult to interpret the pathogenicity of these variants, which often remain variants of uncertain significance (VSI). The usefulness of transcriptome sequencing (RNA-seq) in the genetic diagnosis of MM has been demonstrated in recent years by several teams with diagnostic yields of 10%

Sign in to get the eligibility rules as simple questions to take to your doctor.

Sign in
📋 Eligibility rules (as published)
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.
💊

What it tests

  • cutanous biopsy and blood sample
📍

Where

2 sites
CHU de NIce
Nice, France
CHU de Montpellier
Montpellier, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
🛡️

AI Cure shows public evidence (Open Targets, ClinicalTrials.gov, PubMed, openFDA, DepMap, AlphaFold) with its source, and AI summaries that cite it — not medical advice and not a cure. Treatment decisions belong with your doctor. Research ideas are shared only with approved researchers and labs, who can test them. In an emergency call your local emergency number (112 in India and Europe, 911 in the US). AI Cure Terms of Use · Privacy