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 type | Observational |
|---|---|
| Sex | All |
| Enrollment | 6000 (estimated) |
| Sponsor | LMU Klinikum Academic / other |
| Locations | 34 sites (Innsbruck and 33 other locations) |
| Status | Recruiting |
| Started | February 1, 2009 |
| Main results expected | December 2040 |
| Study ends | December 2040 |
| Registry record updated | August 7, 2026 |
| Trial ID | NCT05554835 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
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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
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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
- Principal investigator: Thomas Klopstock, Prof. Dr. — LMU Klinikum, Munich
- Study coordinator: Boriana Büchner, Dr.
- Email: boriana.buechner@med.uni-muenchen.de
- Phone: +49 89 4400
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.
-
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.
-
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.
-
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.
-
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.
-
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.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.