Mitochondrial DisordersMitoIDNCT06213103
Mitochondrial Disease-associated ImmunoDeficiencies
An observational study of Mitochondrial Disorders, run by University Hospital, Bordeaux at 2 sites in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 6 years and olderHealthy volunteers can take part
- Conditions the study is for
- Mitochondrial Disorders
- What is being tested?
- Patient cohort
- Type of treatment
- Surgery or procedure
- How many people
- 60 participants
- Where
- 2 sitesFrance
- Study dates
- 30 Jan 2024to Jan 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: * Patient cohort : Patient with moleculary proven mitochondrial disorder * Control cohort : People without moleculary proven mitochondrial disorder
Who may be able to join
- 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).
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- 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
Who cannot join
- 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).
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Johan Garaude, MD contact
France2 sites, 2 recruiting
- Recruiting
Chu Bordeaux
Bordeaux
Aurélien TRIMOUILLE, MD
- Not yet recruiting
Hopital Toulouse
Toulouse, 31059
Olivier PATAT, MD, patat.o@chu-toulouse.fr
About this study
Official 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.
Read the detailed 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.
- Conditions
- Mitochondrial Disorders
- Being tested
- Patient cohort, Control cohort
- Keywords
- mitochondrial diseases, immunology, PBMCs, scATAC-seq, scRNA-seq
- Medical subject headings
- Mitochondrial Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Patient cohortProcedure or surgery
Collection of 6 blood tubes at the inclusion visit.
Control cohortProcedure or surgery
Collection of 6 blood tubes at the inclusion visit.
| Study group | Role | What they receive |
|---|---|---|
| o Patient cohort | Patient with moleculary proven mitochondrial disorder | |
| o Control cohort | People without moleculary proven mitochondrial disorder |
What is being measured
The primary outcome is the main question the study is designed to answer.
Immunological parameters
Distribution of several quantitative immunological parameters at inclusion. The following parameters will be considered : Immunoglobulins in g/l (IgG subclasses, IgA, IgM)
Measured: Inclusion visit
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
Measured: Inclusion visit
Secondary outcomes (3)
Immunological parameters
Description of the percentage of patients with abnormal immunological parameters
Measured: Inclusion visit
infectious events
Incidence of severe or recurrent infectious events retrospectively compared to the general population
Measured: Inclusion visit
Biological markers
Description of the percentage of patients with abnormal key cytokines (TNF, IL-1b, IL-6, IL-12)
Measured: Inclusion visit
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Jan 2024
- Study start30 Jan 2024
- Primary completionJan 2028 (estimated)
- Study completionJan 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mitochondrial DisordersStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 60 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Bordeaux
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Aurélien TRIMOUILLE, MD, Principal investigator, University Hospital, Bordeaux
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06213103
- Sponsor's protocol ID
- CHUBX 2022/36
- Acronym
- MitoID
- Status last verified
- Jan 2026
- First submitted
- 9 Jun 2023
- Last updated
- 3 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Determining the Relevance of Mitochondrial Disease-associated ImmunoDeficiencies - MitoID
- ClinicalTrials.gov ID
- NCT06213103
- Acronym / sponsor ID
- MitoID / CHUBX 2022/36
- Conditions
- Mitochondrial Disorders
- Keywords
- mitochondrial diseases, immunology, PBMCs, scATAC-seq, scRNA-seq
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 60 participants (estimated)
- Lead sponsor
- University Hospital, BordeauxUniversity, hospital or other
- Study start
- 30 Jan 2024 (actual)
- Primary completion
- Jan 2028 (estimated)
- Study completion
- Jan 2028 (estimated)
- First posted
- 19 Jan 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed 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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| o Patient cohort | – | –Patient with moleculary proven mitochondrial disorder |
| o Control cohort | – | –People without moleculary proven mitochondrial disorder |
Who may qualify
- Ages
- 6 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- * Patient cohort : Patient with moleculary proven mitochondrial disorder * Control cohort : People without moleculary proven mitochondrial disorder
Key inclusion criteria (12 listed)
- General inclusion criteria:
- Patient-specific inclusion criteria:
- Specific inclusion criteria for controls:
Key exclusion criteria (3 listed)
- 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).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Patient cohortCollection of 6 blood tubes at the inclusion visit. | Procedure or surgery | – |
| Control cohortCollection of 6 blood tubes at the inclusion visit. | Procedure or surgery | – |
Primary outcome
Immunological parameters
Time frame: 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
Time frame: 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
3 secondary outcomes
Immunological parameters
Time frame: Inclusion visit
infectious events
Time frame: Inclusion visit
Biological markers
Time frame: Inclusion visit
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Feb 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Johan Garaude, MD contact
Aurélien TRIMOUILLE, MD principal investigator
University Hospital, Bordeaux
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Mitochondrial Disorders, run by University Hospital, Bordeaux at 2 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 12 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 3 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Aurélien TRIMOUILLE, MD (+335 57 82 10 49, aurelien.trimouille@chu-bordeaux.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Immunological parameters (time frame: Inclusion visit). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Feb 2026.