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โ† Trials
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Mitochondrial Disease-associated ImmunoDeficiencies

Recruitingn/aAges 6 Years - anyAllUniversity Hospital, Bordeaux
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In plain words

What the trial is, and whether it could suit you

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.

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

๐Ÿ“‹ Eligibility rules (as published)
Inclusion Criteria: * 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 Criteria: * 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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What it tests

  • Patient cohort
  • Control cohort
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Where

2 sites
Chu Bordeaux
Bordeaux, France
Hopital Toulouse
Toulouse, France
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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