Eligibility Module
The Eligibility Module contains detailed information about who can participate in the clinical trial. This includes eligibility criteria, age restrictions, gender requirements, healthy volunteer status, and study population descriptions, helping researchers understand who is eligible to participate in the study.
Eligibility Module path is as follows:
Study -> Protocol Section -> Eligibility Module
Eligibility Module
Ignite Creation Date:
2025-12-24 @ 9:24 PM
Ignite Modification Date:
2025-12-24 @ 9:24 PM
NCT ID:
NCT06621732
Eligibility 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.
Healthy Volunteers:
False
Sex:
ALL
Study:
NCT06621732
Study Brief:
Protocol Section:
NCT06621732