Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
60 participants
OBSERVATIONAL
2024-01-30
2025-01-31
Brief Summary
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Detailed Description
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The immune system dysfunctions associated with mitochondrial diseases remain unknown to date despite the presence of the deleterious variant in leukocytes. Recent studies by group of the investigators and others in animal models clearly show the importance of mitochondrial functions in the regulation of inflammatory and antimicrobial processes. These experimental data are particularly relevant in light of recent clinical studies indicating that patients with mitochondriopathies have a higher rate of bacterial infections compared to control individuals.
The investigators hypothesized that immunological parameters assessment in patients will reveal new dysfunctions associated with these pathologies and that some of these parameters will be a prognostic factor in these "step-like" progression of these diseases.
This study will recruit 30 patients with mitochondrial disorders followed in Bordeaux University Hospital and Toulouse University Hospital for who the mutation of mitochondrial DNA has been previously identified. Among classical disease activity information, blood samples will be collected to study immunological parameters. Translational research will be realized on patient' samples to assess immune cell subsets and innate immune cells functions.
Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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o Patient cohort
Patient with moleculary proven mitochondrial disorder
Patient cohort
Collection of 6 blood tubes at the inclusion visit.
o Control cohort
People without moleculary proven mitochondrial disorder
Control cohort
Collection of 6 blood tubes at the inclusion visit.
Interventions
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Patient cohort
Collection of 6 blood tubes at the inclusion visit.
Control cohort
Collection of 6 blood tubes at the inclusion visit.
Eligibility Criteria
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Inclusion Criteria
* 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 Criteria
* 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).
6 Years
ALL
Yes
Sponsors
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University Hospital, Bordeaux
OTHER
Responsible Party
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Principal Investigators
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Aurélien TRIMOUILLE, MD
Role: PRINCIPAL_INVESTIGATOR
University Hospital, Bordeaux
Locations
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Chu Bordeaux
Bordeaux, , France
Hopital Toulouse
Toulouse, , France
Countries
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Central Contacts
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Facility Contacts
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Aurélien TRIMOUILLE, MD
Role: primary
Other Identifiers
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CHUBX 2022/36
Identifier Type: -
Identifier Source: org_study_id
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