NCT06213103

Brief 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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
60

participants targeted

Target at P25-P50 for all trials

Timeline
20mo left

Started Jan 2024

Longer than P75 for all trials

Geographic Reach
1 country

2 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress58%
Jan 2024Jan 2028

First Submitted

Initial submission to the registry

June 9, 2023

Completed
7 months until next milestone

First Posted

Study publicly available on registry

January 19, 2024

Completed
11 days until next milestone

Study Start

First participant enrolled

January 30, 2024

Completed
3.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2028

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2028

Last Updated

February 3, 2026

Status Verified

January 1, 2026

Enrollment Period

3.9 years

First QC Date

June 9, 2023

Last Update Submit

January 30, 2026

Conditions

Mitochondrial Disorders

Keywords

mitochondrial diseasesimmunologyPBMCsscATAC-seqscRNA-seq

Outcome Measures

Primary Outcomes (2)

  • 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

  • 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 Outcomes (3)

  • Immunological parameters

    Inclusion visit

  • infectious events

    Inclusion visit

  • Biological markers

    Inclusion visit

Study Arms (2)

o Patient cohort

Patient with moleculary proven mitochondrial disorder

o Control cohort

People without moleculary proven mitochondrial disorder

Interventions

Patient cohortPROCEDURE

Collection of 6 blood tubes at the inclusion visit.

Control cohortPROCEDURE

Collection of 6 blood tubes at the inclusion visit.

Eligibility Criteria

Age6 Years+
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

* Patient cohort : Patient with moleculary proven mitochondrial disorder * Control cohort : People without moleculary proven mitochondrial disorder

You may qualify if:

  • Patient weighing more than 30kg
  • 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

You may not qualify if:

  • 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).

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (2)

Chu Bordeaux

Bordeaux, France

RECRUITING

Hopital Toulouse

Toulouse, 31059, France

NOT YET RECRUITING

MeSH Terms

Conditions

Mitochondrial Diseases

Condition Hierarchy (Ancestors)

Metabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • Aurélien TRIMOUILLE, MD

    University Hospital, Bordeaux

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Aurélien TRIMOUILLE, MD

CONTACT

+335 57 82 10 49aurelien.trimouille@chu-bordeaux.fr

Johan Garaude, MD

CONTACT

johan.garaude@inserm.fr

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

June 9, 2023

First Posted

January 19, 2024

Study Start

January 30, 2024

Primary Completion (Estimated)

January 1, 2028

Study Completion (Estimated)

January 1, 2028

Last Updated

February 3, 2026

Record last verified: 2026-01

Locations

FR(2)