Characterizing immune dysfunctions in mitochondrial diseases
Determining the Relevance of Mitochondrial Disease-associated ImmunoDeficiencies - MitoID
This study is trying to understand how the immune system works differently in people with mitochondrial diseases to find new ways to help them feel better.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 60 (estimated) |
| Ages | 6 Years and up |
| Sex | All |
| Sponsor | University Hospital, Bordeaux Academic / other |
| Locations | 2 sites (Bordeaux and 1 other locations) |
| Trial ID | NCT06213103 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include individuals with molecularly proven primary mitochondrial disease who weigh more than 30kg.
Not a fit: Patients without a confirmed diagnosis of primary mitochondrial disease or those who do not meet the inclusion criteria may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide insights into immune dysfunctions that may lead to improved diagnostic and therapeutic strategies for patients with mitochondrial diseases.
How similar studies have performed: While the specific approach of this study is novel, previous studies have indicated the importance of mitochondrial functions in immune regulation, suggesting potential for meaningful discoveries.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Bordeaux and 1 other locations
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.