Mitochondrial Disease-associated ImmunoDeficiencies

Phase

N/A

Condition

Mitochondrial Diseases

Treatment

Patient cohort

Control cohort

Clinical Study ID

NCT06213103

CHUBX 2022/36

Ages > 6
All Genders
Accepts Healthy Volunteers

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 Criteria

Inclusion

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 minorpatients and the investigator prior to any examination required by the researchand oral and/or written assent by the participant (depending on age).
Free, informed consent signed by the patient's representative for adultpatients under guardianship and the investigator prior to any examinationrequired by the research.
Free, informed consent signed by the patient of legal age and the investigatorprior 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 inage (+/- 5 years) and sex to a patient with primary mitochondrial disease atthe time of sampling
Free, informed, and signed consent
Person with no known mitochondrial disease

Exclusion

Exclusion Criteria:

Pregnant or breastfeeding women
Refusal to consent to participate in research,
Patients for whom molecular causes have not been formally identified (geneticanalyses not performed, or no variant or variant of unknown significance afteranalysis).

Study Design

Patient cohort

January 30, 2024

January 31, 2028

Study Description

Mitochondrial pathologies are rare genetic diseases, and affect about 1 in 4300 people. These pathologies are characterized by an energetic deficit that can affect all organs, and can manifest from birth to adulthood. The clinical expression is very heterogeneous, the symptoms can include encephalopathies, myopathies, cardiomyopathies, among others, with frequently "an illegitimate association of symptoms" that add up in a progressive way. These pathologies are related to the presence of pathogenic mutations in the genes of the nuclear genome involved in mitochondrial metabolism, or directly in the genes of the mitochondrial DNA (mtDNA).

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.

Connect with a study center

Chu Bordeaux
Bordeaux,
France
Site Not Available
Chu Bordeaux
Bordeaux 3031582,
France
Active - Recruiting
Hopital Toulouse
Toulouse, 31059
France
Site Not Available
Hopital Toulouse
Toulouse 2972315, 31059
France
Site Not Available

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