RecruitingNCT06213103

Mitochondrial Disease-associated ImmunoDeficiencies

Determining the Relevance of Mitochondrial Disease-associated ImmunoDeficiencies - MitoID

Sponsor

University Hospital, Bordeaux

Enrollment

60 participants

Start Date

Jan 30, 2024

Study Type

OBSERVATIONAL

Conditions

Mitochondrial Disorders

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 strategies to alleviate disease burden.

Eligibility

Min Age: 6 Years

Inclusion Criteria9

Patient weighing more than 30kg
Person affiliated with or receiving a social security plan;
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
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 Criteria3

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).

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