Characterizing immune dysfunctions in mitochondrial diseases

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to characterize immune dysfunctions in patients with mitochondrial disorders, which are rare genetic diseases affecting energy metabolism in the body. The study will recruit 30 patients with molecularly proven primary mitochondrial disease and a matched control cohort. By assessing immunological parameters, the researchers hope to uncover new dysfunctions associated with these diseases and identify potential prognostic factors. The findings could lead to new therapeutic strategies to alleviate the burden of these conditions.

Why it matters

Who can join: the full rules

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).

Where it's running

• Chu Bordeaux
  Bordeaux, France Recruiting
• Hopital Toulouse
  Toulouse, France Not yet recruiting

Study contacts

• Principal investigator: Aurélien TRIMOUILLE, MD — University Hospital, Bordeaux
• Study coordinator: Aurélien TRIMOUILLE, MD
• Email: aurelien.trimouille@chu-bordeaux.fr
• Phone: +335 57 82 10 49

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.