Ireland
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Recruiting Observational

Mitochondrial Disease-associated ImmunoDeficiencies

NCT06213103 · tracked via the Priya Life Science France tracker
Phase
Observational
Started
2024-01-30
Last updated
2026-02-03

Condition(s) studied

Mitochondrial Disorders

Investigational drug(s) / intervention(s)

Patient cohortControl cohort

Patient cohort: Collection of 6 blood tubes at the inclusion visit.

Control cohort: Collection of 6 blood tubes at the inclusion visit.

Study 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

Sex
ALL
Min age
6 Years
Max age
—
Healthy volunteers
Accepted
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).

Primary outcome measure(s)

  • Immunological parameters — Inclusion visit
    Distribution of several quantitative immunological parameters at inclusion. The following parameters will be considered : Immunoglobulins in g/l (IgG subclasses, IgA, IgM)
  • Immunological parameters — Inclusion visit
    Distribution of several quantitative immunological parameters at inclusion. The following parameters will be considered : multiplex flow cytometry panels (Th1, Th2, Th17, Tfh, T, B, monocytes) in fluorescence intensity unit

Trial sites (2)

FacilityCityRegionStatus
Chu Bordeaux Bordeaux France Recruiting
Hopital Toulouse Toulouse France Not Yet Recruiting
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06213103 on ClinicalTrials.gov ↗ ← All trials in France