Mitochondrial Disorders Clinical Trial
— MitoIDOfficial title:
Determining the Relevance of Mitochondrial Disease-associated ImmunoDeficiencies - MitoID
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.
Status | Recruiting |
Enrollment | 60 |
Est. completion date | January 2025 |
Est. primary completion date | January 2025 |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | All |
Age group | 6 Years and older |
Eligibility | 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). |
Country | Name | City | State |
---|---|---|---|
France | Chu Bordeaux | Bordeaux | |
France | Hopital Toulouse | Toulouse |
Lead Sponsor | Collaborator |
---|---|
University Hospital, Bordeaux |
France,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Immunological parameters | Distribution of several quantitative immunological parameters at inclusion. The following parameters will be considered : Immunoglobulins in g/l (IgG subclasses, IgA, IgM) | Inclusion visit | |
Primary | Immunological parameters | 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 | Inclusion visit | |
Secondary | Immunological parameters | Description of the percentage of patients with abnormal immunological parameters | Inclusion visit | |
Secondary | infectious events | Incidence of severe or recurrent infectious events retrospectively compared to the general population | Inclusion visit | |
Secondary | Biological markers | Description of the percentage of patients with abnormal key cytokines (TNF, IL-1b, IL-6, IL-12) | Inclusion visit |
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