Global Registry and Natural History Study for Mitochondrial Disorders
NCT ID: NCT05554835
Last Updated: 2025-06-05
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.
RECRUITING
6000 participants
OBSERVATIONAL
2009-02-01
2040-12-31
Brief Summary
Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.
Related Clinical Trials
Explore similar clinical trials based on study characteristics and research focus.
Tissue Sample Study for Mitochondrial Disorders
NCT01803906
Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read Genomics
NCT03962452
Natural History Study - Mitochondrial Disease
NCT01532791
mtDNA Mutation Load Analysis in Mesoangioblasts
NCT05199740
Mutation Exploration in Non-acquired, Genetic Disorders and Its Impact on Health Economy and Life Quality
NCT02380729
Detailed Description
Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.
The global mitochondrial registry and natural history study provides for all contingencies of national ethics and data protection rules including data access management.
Currently participating networks are:
* German network for mitochondrial diseases - mitoNET, Germany/Austria
* Italian Registry of Mitochondrial Patients - Mitocon, Italy
The inclusion of other networks and countries is possible and explicitly welcome. A major advantage of the global registry is that countries can join in, saving a lot of time, effort and funding.
Conditions
See the medical conditions and disease areas that this research is targeting or investigating.
Study Design
Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.
COHORT
PROSPECTIVE
Study Groups
Review each arm or cohort in the study, along with the interventions and objectives associated with them.
Mitochondrial patients
Patients with a suspected or confirmed mitochondrial disease.
No interventions assigned to this group
Eligibility Criteria
Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.
Inclusion Criteria
* willingness to participate
Exclusion Criteria
ALL
No
Sponsors
Meet the organizations funding or collaborating on the study and learn about their roles.
European Commission
OTHER
German Federal Ministry of Education and Research
OTHER_GOV
University of Pisa
OTHER
LMU Klinikum
OTHER
Responsible Party
Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.
Prof. Thomas Klopstock
Prof. Dr. Thomas Klopstock
Principal Investigators
Learn about the lead researchers overseeing the trial and their institutional affiliations.
Thomas Klopstock, Prof. Dr.
Role: PRINCIPAL_INVESTIGATOR
LMU Klinikum, Munich
Michelangelo Mancuso, Prof. Dr.
Role: PRINCIPAL_INVESTIGATOR
Università di Pisa
Locations
Explore where the study is taking place and check the recruitment status at each participating site.
Medical University Innsbruck, Department of Pediatrics
Innsbruck, , Austria
Salzburger Landeskliniken, SALK, Paracelsus Medizinische Privatuniversität
Salzburg, , Austria
Department of neurology, Klinikum rechts der Isar, Technical University Munich
Munich, Bavaria, Germany
Charité Virchow Klinikum, Klinik für Pädiatrie m. S. Neurologie
Berlin, , Germany
Universität Bonn, Klinik und Poliklinik für Neurologie
Bonn, , Germany
Universitätsklinikum Köln, Klinik und Poliklinik für Kinder- und Jugendmedizin
Cologne, , Germany
Universitätsklinikum Düsseldorf, Klinik für allgemeine Pädiatrie, Neonatologie und Kinderkardiologie
Düsseldorf, , Germany
Universitätsklinikum Frankfurt, Klinik für Kinder- und Jugendmedizin, Schwerpunkt Neurologie, Neurometabolik und Prävention
Frankfurt am Main, , Germany
University Medical Center Freiburg, Center for children and youth medicine
Freiburg im Breisgau, , Germany
Martin-Luther-Universität Halle-Wittenberg, Neurologische Klinik und Poliklinik
Halle, , Germany
Universitätsklinikum Hamburg Eppendorf Institut für Humangenetik
Hamburg, , Germany
Universitätsklinikum Hamburg Eppendorf, Klinik für Kinder-und Jugendmedizin
Hamburg, , Germany
Universitätsklinikum Hamburg Eppendorf, Klinik für Neurologie
Hamburg, , Germany
Universitätsklinikum Heidelberg, Zentrum für Kinder- und Jugendmedizin, Sektion für Neuropädiatrie und Stoffwechselmedizin
Heidelberg, , Germany
LMU Klinikum, Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik
München, , Germany
Klinikum am Steinenberg, Kreiskliniken Reutlingen, Klinik für Kinder-und Jugendmedizin, Perinatal- u. Stoffwechselzentrum
Reutlingen, , Germany
Universitätsklinikum Tübingen, Neurologische Klinik und Hertie Institut für Klinische Hirnforschung
Tübingen, , Germany
Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa & AOUP
Pisa, , Italy
Countries
Review the countries where the study has at least one active or historical site.
Central Contacts
Reach out to these primary contacts for questions about participation or study logistics.
Facility Contacts
Find local site contact details for specific facilities participating in the trial.
Saskia Wortmann, PD Dr. med.
Role: primary
Marcus Deschauer, Prof. Dr.
Role: primary
Luisa Semmler
Role: backup
Matthias Kieslich, Prof.Dr.med.
Role: primary
Martin Lindner, PD Dr. med.
Role: backup
Alexander Mensch, Dr. med.
Role: primary
Annamarie Thäle, Dr. med.
Role: backup
René Santer, Prof.Dr.med.
Role: primary
Konstantinos Tsiakas, Dr. med.
Role: backup
Georg F. Hoffmann, Prof. Dr.
Role: primary
Thomas Klopstock, Prof. Dr.
Role: primary
Vanessa Kock, Dr. med.
Role: backup
References
Explore related publications, articles, or registry entries linked to this study.
Stenton SL, Sheremet NL, Catarino CB, Andreeva NA, Assouline Z, Barboni P, Barel O, Berutti R, Bychkov I, Caporali L, Capristo M, Carbonelli M, Cascavilla ML, Charbel Issa P, Freisinger P, Gerber S, Ghezzi D, Graf E, Heidler J, Hempel M, Heon E, Itkis YS, Javasky E, Kaplan J, Kopajtich R, Kornblum C, Kovacs-Nagy R, Krylova TD, Kunz WS, La Morgia C, Lamperti C, Ludwig C, Malacarne PF, Maresca A, Mayr JA, Meisterknecht J, Nevinitsyna TA, Palombo F, Pode-Shakked B, Shmelkova MS, Strom TM, Tagliavini F, Tzadok M, van der Ven AT, Vignal-Clermont C, Wagner M, Zakharova EY, Zhorzholadze NV, Rozet JM, Carelli V, Tsygankova PG, Klopstock T, Wittig I, Prokisch H. Impaired complex I repair causes recessive Leber's hereditary optic neuropathy. J Clin Invest. 2021 Mar 15;131(6):e138267. doi: 10.1172/JCI138267.
Stendel C, Neuhofer C, Floride E, Yuqing S, Ganetzky RD, Park J, Freisinger P, Kornblum C, Kleinle S, Schols L, Distelmaier F, Stettner GM, Buchner B, Falk MJ, Mayr JA, Synofzik M, Abicht A, Haack TB, Prokisch H, Wortmann SB, Murayama K, Fang F, Klopstock T; ATP6 Study Group. Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration. Neurol Genet. 2020 Jan 13;6(1):e393. doi: 10.1212/NXG.0000000000000393. eCollection 2020 Feb.
Ng YS, Bindoff LA, Gorman GS, Klopstock T, Kornblum C, Mancuso M, McFarland R, Sue CM, Suomalainen A, Taylor RW, Thorburn DR, Turnbull DM. Mitochondrial disease in adults: recent advances and future promise. Lancet Neurol. 2021 Jul;20(7):573-584. doi: 10.1016/S1474-4422(21)00098-3.
Ng YS, Bindoff LA, Gorman GS, Horvath R, Klopstock T, Mancuso M, Martikainen MH, Mcfarland R, Nesbitt V, Pitceathly RDS, Schaefer AM, Turnbull DM. Consensus-based statements for the management of mitochondrial stroke-like episodes. Wellcome Open Res. 2019 Dec 13;4:201. doi: 10.12688/wellcomeopenres.15599.1. eCollection 2019.
Mancuso M, McFarland R, Klopstock T, Hirano M; consortium on Trial Readiness in Mitochondrial Myopathies. International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy. Neuromuscul Disord. 2017 Dec;27(12):1126-1137. doi: 10.1016/j.nmd.2017.08.006. Epub 2017 Sep 8. No abstract available.
Related Links
Access external resources that provide additional context or updates about the study.
mitoNET website
Mitocon website
Other Identifiers
Review additional registry numbers or institutional identifiers associated with this trial.
mitoGLOBAL
Identifier Type: -
Identifier Source: org_study_id
More Related Trials
Additional clinical trials that may be relevant based on similarity analysis.