Mitochondrial Disease-associated ImmunoDeficiencies
Recruiting now
Conditions studied: Mitochondrial Disorders
In brief
The study aims at characterizing the immune dysfunctions in patients with mitochondrial diseases. This has prognostic and diagnostic interest as well as potential for the discovery of new therapeutic strategies to alleviate disease burden.
Key facts
- Study ID
- NCT06213103
- Run by
- University Hospital, Bordeaux
- People needed
- 60
- Starts
- 2024-01-30
- Expected to finish
- 2028-01-01
- Last updated by the study team
- 2026-02-03
Who can join
Age: 6 and older. Sex: any. Healthy volunteers: accepted.
You may qualify if…
- General inclusion criteria:
- Patient weighing more than 30kg
- Person affiliated with or receiving a social security plan;
- Patient-specific inclusion criteria:
- Patient with molecularly proven primary mitochondrial disease
- Free, informed, written consent signed by parental authority holders for minor patients and the investigator prior to any examination required by the research and oral and/or written assent by the participant (depending on age).
- Free, informed consent signed by the patient's representative for adult patients under guardianship and the investigator prior to any examination required by the research.
- Free, informed consent signed by the patient of legal age and the investigator prior to any examination required by the research
- Specific inclusion criteria for controls:
- Person who has been informed of the purpose of the study and person matched in age (+/- 5 years) and sex to a patient with primary mitochondrial disease at the time of sampling
- Free, informed, and signed consent
- Person with no known mitochondrial disease
You may not qualify if…
- Pregnant or breastfeeding women
- Refusal to consent to participate in research,
- Patients for whom molecular causes have not been formally identified (genetic analyses not performed, or no variant or variant of unknown significance after analysis).
Where it is running
- Chu Bordeaux — Bordeaux, France (enrolling)
- Hopital Toulouse — Toulouse, France
Full record on ClinicalTrials.gov
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