Status:
RECRUITING
Mitochondrial Disease-associated ImmunoDeficiencies
Lead Sponsor:
University Hospital, Bordeaux
Conditions:
Mitochondrial Disorders
Eligibility:
All Genders
6+ years
Brief Summary
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 ...
Detailed Description
Mitochondrial pathologies are rare genetic diseases, and affect about 1 in 4300 people. These pathologies are characterized by an energetic deficit that can affect all organs, and can manifest from bi...
Eligibility Criteria
Inclusion
- 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
Exclusion
- 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).
Key Trial Info
Start Date :
January 30 2024
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
January 1 2025
Estimated Enrollment :
60 Patients enrolled
Trial Details
Trial ID
NCT06213103
Start Date
January 30 2024
End Date
January 1 2025
Last Update
February 5 2024
Active Locations (2)
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1
Chu Bordeaux
Bordeaux, France
2
Hopital Toulouse
Toulouse, France, 31059