Clinical trial Recruiting at 34 sites Observational

Global registry for mitochondrial disorders

Official title: Global Mitochondrial Registry to Define Natural History and Outcome Measures to Achieve Definite Trial Readiness for Mitochondrial Disorders

Run by LMU Klinikum · NCT05554835 · Data updated 2026-11-12

This study is creating a global database for mitochondrial disorders to help understand these diseases better and improve future treatments for patients.

Quick facts

Study typeObservational
SexAll
Enrollment6000 (estimated)
SponsorLMU Klinikum
Academic / other
Locations34 sites (Innsbruck and 33 other locations)
StatusRecruiting
StartedFebruary 1, 2009
Main results expectedDecember 2040
Study endsDecember 2040
Registry record updatedAugust 7, 2026
Trial IDNCT05554835 on ClinicalTrials.gov

Is this trial a fit for you?

Likely a good fit

Ideal candidates for this study are individuals with suspected or confirmed mitochondrial diseases who are willing to participate.

Probably not a fit

Patients who are unwilling to participate in the registry will not benefit from this study.

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This project aims to create a comprehensive global registry for mitochondrial disorders, harmonizing existing national registries to enable worldwide participation. It focuses on understanding the natural history of mitochondrial diseases, which will inform the design of clinical trials and the definition of outcome measures. The study is part of the EU-financed GENOMIT project, coordinated by Dr. Holger Prokisch at Technische Universität München. It also ensures compliance with national ethics and data protection regulations while encouraging the inclusion of additional networks and countries.

Why it matters

Potential benefit: If successful, this registry could significantly enhance the understanding and treatment of mitochondrial disorders, leading to improved patient outcomes.

How similar studies have gone: Other studies have successfully utilized registry approaches to advance understanding and treatment of rare diseases, making this a promising initiative.

Who can join: the full rules

Show full inclusion / exclusion criteria
Inclusion Criteria:

* suspected or confirmed mitochondrial disease
* willingness to participate

Exclusion Criteria:

* unwillingness to participate

Where it's running

  • Medical University Innsbruck, Department of Pediatrics
    Innsbruck, Austria
    Recruiting
  • Salzburger Landeskliniken, SALK, Paracelsus Medizinische Privatuniversität
    Salzburg, Austria
    Recruiting
  • Department of Neurology, Klinikum Rechts der Isar, Technical University Munich
    Munich, Bavaria, Germany
    Recruiting
  • Charité Virchow Klinikum, Klinik für Pädiatrie m. S. Neurologie
    Berlin, Germany
    Recruiting
  • Universität Bonn, Klinik und Poliklinik für Neurologie
    Bonn, Germany
    Recruiting
  • Universitätsklinikum Köln, Klinik und Poliklinik für Kinder- und Jugendmedizin
    Cologne, Germany
    Recruiting
Show 28 more locations
  • Universitätsklinikum Düsseldorf, Klinik für allgemeine Pädiatrie, Neonatologie und Kinderkardiologie
    Düsseldorf, Germany
    Recruiting
  • Universitätsklinikum Frankfurt, Klinik für Kinder- und Jugendmedizin, Schwerpunkt Neurologie, Neurometabolik und Prävention
    Frankfurt am Main, Germany
    Recruiting
  • University Medical Center Freiburg, Center for children and youth medicine
    Freiburg im Breisgau, Germany
    Recruiting
  • Universitätsklinik und Poliklinik für Neurologie Universitätsmedizin Halle
    Halle, Germany
    Recruiting
  • Universitätsklinikum Hamburg Eppendorf Institut für Humangenetik
    Hamburg, Germany
    Recruiting
  • Universitätsklinikum Hamburg Eppendorf, Klinik für Kinder-und Jugendmedizin
    Hamburg, Germany
    Recruiting
  • Universitätsklinikum Hamburg Eppendorf, Klinik für Neurologie
    Hamburg, Germany
    Recruiting
  • Universitätsklinikum Heidelberg, Zentrum für Kinder- und Jugendmedizin, Sektion für Neuropädiatrie und Stoffwechselmedizin
    Heidelberg, Germany
    Recruiting
  • LMU Klinikum, Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik
    München, Germany
    Recruiting
  • LMU Klinikum
    München, Germany
    Recruiting
  • Klinikum am Steinenberg, Kreiskliniken Reutlingen, Klinik für Kinder-und Jugendmedizin, Perinatal- u. Stoffwechselzentrum
    Reutlingen, Germany
    Recruiting
  • Universitätsklinikum Tübingen, Neurologische Klinik und Hertie Institut für Klinische Hirnforschung
    Tübingen, Germany
    Recruiting
  • Sant'Orsola-Malpighi University Hospital
    Bologna, Italy
    Recruiting
  • University of Bologna
    Bologna, Italy
    Recruiting
  • University of Bologna
    Bologna, Italy
    Recruiting
  • Nemo Clinical Center
    Brescia, Italy
    Recruiting
  • University of Cagliari
    Cagliari, Italy
    Recruiting
  • AOU Meyer IRCCS Children's Hospital
    Florence, Italy
    Recruiting
  • Giannina Gaslini Children's Hospital
    Genova, Italy
    Recruiting
  • University Hospital G. Martino
    Messina, Italy
    Recruiting
  • IRCCS Foundation Ca' Granda - Ospedale Maggiore
    Milan, Italy
    Recruiting
  • IRCCS Foundation Carlo Besta Neurological Institute
    Milan, Italy
    Recruiting
  • Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa & AOUP
    Pisa, Italy
    Recruiting
  • IRCCS Foundation Stella Maris
    Pisa, Italy
    Recruiting
  • Bambino Gesù Children's Hospital
    Rome, Italy
    Recruiting
  • University of Rome
    Rome, Italy
    Recruiting
  • AOU City of Health and Science of Turin - Molinette Hospital
    Turin, Italy
    Recruiting
  • AOUI Verona
    Verona, Italy
    Recruiting

Study contacts

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

  • Registry for patients with rare diseases

    This study is creating a central registry for people with rare diseases to help connect them with researchers and improve treatments.

    Recruiting Sanford Health · Sioux Falls, South Dakota · NCT01793168

  • Transplantation of MNV-201 for treating Pearson Syndrome in children

    This study is testing a new cell therapy called MNV-201 to see if it can help children with Pearson Syndrome feel better and manage their symptoms.

    Recruiting Phase 2 Minovia Therapeutics Ltd. · Ramat Gan, Israel · NCT06017869

  • Effects of passive exercise on mitochondrial diseases

    This study is testing how different types of exercise, including passive exercise, affect people with mitochondrial diseases compared to healthy individuals.

    Recruiting Phase 1 Children's Hospital of Philadelphia · Philadelphia, Pennsylvania · NCT05569122

  • Measuring oxygen levels in muscle for mitochondrial myopathy

    This study is testing a new device that measures oxygen levels in muscles during exercise to see if it can help understand how mitochondrial myopathy affects patients and improve future treatments.

    Recruiting Phase 1 Children's Hospital of Philadelphia · Philadelphia, Pennsylvania · NCT04086329

  • Metabolic and Functional Study of γδ T Cells in Critically Ill Patients

    Researchers will look at how γδ T cells behave in severely ill patients, including those with sepsis, to see how their metabolism and function change.

    Recruiting Union Hospital, Tongji Medical College, Huazhong University of Science and Technology · Wuhan, Outside of the US · NCT07680816

  • MNGIE Natural History Study

    Researchers are collecting anonymized patient information to see how MNGIE progresses over time and how it affects people living with the condition.

    Recruiting University of Cambridge · Cambridge · NCT07627217

How to take part

  1. Review the eligibility criteria above with your treating physician.
  2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
  3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.
Last reviewed 2026-11-14 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.