Mitochondrial DiseasesGENOMITNCT05554835
Global Registry and Natural History Study for Mitochondrial Disorders
An observational study of Mitochondrial Diseases and Kearns-Sayre Syndrome, run by LMU Klinikum at 34 sites in 3 countries.
Trial summary
The main goal of the project is provision of a global registry for mitochondrial disorders to harmonize previous national registries, enable world-wide participation and facilitate natural history studies, definition of outcome measures and conduction of clinical trials. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Mitochondrial Diseases, Kearns-Sayre Syndrome, MIDD
- How many people
- 6,000 participants
- Where
- 34 sitesin 3 countries
- Study dates
- 1 Feb 2009to Dec 2040
- How long will I take part?
- 30 Years
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: All
Who may be able to join
- suspected or confirmed mitochondrial disease
- willingness to participate
Who cannot join
- unwillingness to participate
Trial locations and contacts
34 sites in 3 countries. Contact the study team or a site near you to ask about taking part.
34 sites in 3 countries
Germany16 sites, 16 recruiting
- Recruiting
Charité Virchow Klinikum, Klinik für Pädiatrie m. S. Neurologie
Berlin, 13353
Markus Schülke-Gerstenfeld, Prof.Dr.med., +49 30 4505 66112, Markus.Schuelke@charite.de
- Recruiting
Universität Bonn, Klinik und Poliklinik für Neurologie
Bonn
Cornelia Kornblum, Prof. Dr., +49 228 287 ext. 19465, Cornelia.Kornblum@ukbonn.de
Jens Reimann, Dr., Ambulanz@ukbonn.de
- Recruiting
Universitätsklinikum Köln, Klinik und Poliklinik für Kinder- und Jugendmedizin
Cologne, 50931
Jürgen-Christoph von Kleist-Retzow, PD Dr., +49 221 478 ext. 42156 / 42157, juergen-christoph.vonkleist@uk-koeln.de
- Recruiting
Universitätsklinikum Düsseldorf, Klinik für allgemeine Pädiatrie, Neonatologie und Kinderkardiologie
Düsseldorf, 40225
Felix Distelmaier, Prof. Dr., +49 211 811 ext. 7661 / 6424, Felix.Distelmaier@med.uni-duesseldorf.de
- Recruiting
Universitätsklinikum Frankfurt, Klinik für Kinder- und Jugendmedizin, Schwerpunkt Neurologie, Neurometabolik und Prävention
Frankfurt am Main, 60590
Matthias Kieslich, Prof.Dr.med., +49 69 6301 ext. 81928, matthias.kieslich@unimedizin-ffm.de
Martin Lindner, PD Dr. med., Martin.winkler@unimedizin-ffm.de
- Recruiting
University Medical Center Freiburg, Center for children and youth medicine
Freiburg im Breisgau, 79106
Matthias Eckenweiler, Dr., +49 761 270 ext. 43864, matthias.eckenweiler@uniklinik-freiburg.de
Anke Schumann, Dr. Dr., +49 761 270 ext. 43864, Anke.Schumann@uniklinik-freiburg.de
- Recruiting
Universitätsklinik und Poliklinik für Neurologie Universitätsmedizin Halle
Halle, 06097
Alexander Mensch, Dr. med., 49 345 557 ext. 2858, neurologie@uk-halle.de
Markus Otto, Prof. Dr. med., +49 345 557 ext. 2858, neurologie@uk-halle.de
- Recruiting
Universitätsklinikum Hamburg Eppendorf Institut für Humangenetik
Hamburg, 20246
Christian Schlein, Dr. Dr. med., +49 40 7410 ext. 50104, c.schlein@uke.de
- Recruiting
Universitätsklinikum Hamburg Eppendorf, Klinik für Kinder-und Jugendmedizin
Hamburg, 20246
Konstantinos Tsiakas, Dr.med., +49 40 7410 ext. 20400, tsiakas@uke.de
Mathias Woidy, Dr. med., +49 40 7410 ext. 20400, m.woidy@uke.de
- Recruiting
Universitätsklinikum Hamburg Eppendorf, Klinik für Neurologie
Hamburg, 20246
Mathias Gelderblom, PD Dr. med., +49 40 7410 ext. 51959, mgelderblom@uke.de
- Recruiting
Universitätsklinikum Heidelberg, Zentrum für Kinder- und Jugendmedizin, Sektion für Neuropädiatrie und Stoffwechselmedizin
Heidelberg, 69120
Georg F. Hoffmann, Prof. Dr., +49 6221 56 ext. 4837 / 4002
Ulrich Pfeifer, Dr., +49 6221 56 4002, Ulrich.Pfeifer@med.uni-heidelberg.de
- Recruiting
LMU Klinikum, Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik
München, 80336
Thomas Klopstock, Prof. Dr., +49 89 4400 57400
Boriana Büchner, Dr. med., +49 89 4400 57067, boriana.buechner@med.uni-muenchen.de
- Recruiting
LMU Klinikum
München, 80337
Peter Freisinger, Prof. Dr. med., kind.epilepsie@med.uni-muenchen.de
Amelie Lotz-Havla, PD. Dr. med., kind.epilepsie@med.uni-muenchen.de
- Recruiting
Department of Neurology, Klinikum Rechts der Isar, Technical University Munich
Munich, Bavaria, 81675
Marcus Deschauer, Prof. Dr., +49 89 4140 ext. 4617
Luisa Semmler, Dr., Luisa.Semmler@mri.tum.de
- Recruiting
Klinikum am Steinenberg, Kreiskliniken Reutlingen, Klinik für Kinder-und Jugendmedizin, Perinatal- u. Stoffwechselzentrum
Reutlingen, 72764
Peter Freisinger, Prof. Dr., +49 7121 200 4051, freisinger_p@klin-rt.de
Vanessa Kock, Dr. med., +49 7121 200 4060
- Recruiting
Universitätsklinikum Tübingen, Neurologische Klinik und Hertie Institut für Klinische Hirnforschung
Tübingen, 72076
Peter Freisinger, Prof. Dr., +49 7071 29 ext. 9000, peter.freisinger@zme-tuebingen.de
Italy16 sites, 16 recruiting
- Recruiting
Sant'Orsola-Malpighi University Hospital
Bologna
Rita Rinaldi, Prof. dr., rita.rinaldi@aosp.bo.it
Rita Rinaldi
- Recruiting
University of Bologna
Bologna
Valerio Carelli, Prof. dr.
Valerio Carelli, Prof. dr.
- Recruiting
University of Bologna
Bologna
Caterina Garone, Prof. dr., caterina.garone@unibo.it
Caterina Garone
- Recruiting
Nemo Clinical Center
Brescia
Massimiliano Filosto, Prof. dr., massimiliano.filosto@unibs.it
Massimiliano Filosto
- Recruiting
University of Cagliari
Cagliari
Maria Antonietta Maioli, dr. med, ma.maioli@tiscali.it
Maria Antonietta Maioli
- Recruiting
AOU Meyer IRCCS Children's Hospital
Florence
Elena Procopio, dr. med, e.procopio@meyer.it
Elena Procopio
- Recruiting
Giannina Gaslini Children's Hospital
Genova
Claudio Bruno, Prof. dr., claudiobruno@gaslini.org
Claudio Bruno, Bruno
- Recruiting
University Hospital G. Martino
Messina
Olimpia Musumeci, Prof. dr., omusumeci@unime.it
Olimpia Musumeci
- Recruiting
IRCCS Foundation Ca' Granda - Ospedale Maggiore
Milan
Giacomo Pietro Comi, Prof. dr., giacomo.comi@unimi.it
Giacomo Pietro Comi
- Recruiting
IRCCS Foundation Carlo Besta Neurological Institute
Milan
Costanza Lamperti, dr. med, costanza.lamperti@istituto-besta.it
Costanza Lamperti
- Recruiting
Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa & AOUP
Pisa
Michaelangelo Mancuso, Prof. Dr., +39 (0)50 992443, michelangelo.mancuso@unipi.it
Michelangelo Mancuso
- Recruiting
IRCCS Foundation Stella Maris
Pisa
Filippo Santorelli, dr. med, filippo3364@gmail.com
Filippo Santorelli
- Recruiting
Bambino Gesù Children's Hospital
Rome
Enrico Silvio Bertini, Prof. dr., enricosilvio.bertini@opbg.net
Enrico Silvio Bertini
- Recruiting
University of Rome
Rome
Serenella Servidei, Prof. dr.
Serenella Servidei, Prof. dr.
- Recruiting
AOU City of Health and Science of Turin - Molinette Hospital
Turin
Tiziana Prof, Dr. Mongini, tmongini@cittadellasalute.to.it
Tiziana Mongini
- Recruiting
AOUI Verona
Verona
Paola Tonin, Prof. dr., paola.tonin@aovr.veneto.it
Paola Tonin
Austria2 sites, 2 recruiting
- Recruiting
Medical University Innsbruck, Department of Pediatrics
Innsbruck, 6020
Daniela Karall, Prof. Dr., +43 512 504 ext. 23501, daniela.karall@i-med.ac.at
Sabine Scholl-Bürgi, PD Dr., sabine.scholl-buergi@tirol-kliniken.at
- Recruiting
Salzburger Landeskliniken, SALK, Paracelsus Medizinische Privatuniversität
Salzburg, 5020
Saskia Wortmann, Prof. Dr. med., +43 5 7255 ext. 26100, s.wortmann@salk.at
Katja Steinbrücker, Dr., +43 5 7255 ext. 26100
About this study
Official title: Global Mitochondrial Registry to Define Natural History and Outcome Measures to Achieve Definite Trial Readiness for Mitochondrial Disorders
The main goal of the project is provision of a global registry for mitochondrial disorders to harmonize previous national registries, enable world-wide participation and facilitate natural history studies, definition of outcome measures and conduction of clinical trials.
Read the detailed description
The global mitochondrial registry and natural history study is part of the EU-financed GENOMIT project, co-ordinated by Dr. Holger Prokisch, Technische Universität München (TUM).It aims at advancing the understanding of the natural history of mitochondrial disease to inform the design and facilitate the conduction of clinical trials. It also serves as a catalyst for translating basic research results into clinical practice.
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
- Mitochondrial Diseases, Kearns-Sayre Syndrome, MIDD, SANDO, SCAE, NARP Syndrome
- Keywords
- Patient Registry
- Medical subject headings
- Mitochondrial Diseases, Kearns-Sayre Syndrome, Ataxia Neuropathy Spectrum, Neuropathy ataxia and retinitis pigmentosa, MELAS Syndrome, MERRF Syndrome, Coenzyme Q10 Deficiency, Barth Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Mitochondrial patients | Patients with a suspected or confirmed mitochondrial disease. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Newcastle Mitochondrial Disease Scale for Adults (NMDAS), Sections I-III
Newcastle Mitochondrial Disease Scale for Adults (NMDAS) is a clinical rating scale designed for mitochondrial disease. The rating scale explores several domains: current function, system specific involvement and current clinical assessment. The individual scores are summed to provide a total score that ranges from 0 to 145; higher scores indicate more severely affection.
Measured: The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
Newcastle Pediatric Mitochondrial Disease Scale for Children (NPMDS)
NPMDS is a clinical rating scale designed for mitochondrial disease in children.
There are three versions of the NPMDS, each for a specific age range (0-24 months, 2-11 years, and 12-18 years). The rating scale explores several domains: current function (Section I), system specific involvement (Section II), current clinical assessment (Section III) and quality of life (QoL) assessments (Section IV). The individual scores in Section I-III are summed to provide a total score that ranges from 0 to 70 (version 0-24month) and 0-82 (versions 2-18 years); higher scores indicate more severely affection. Section IV (QoL) is scored separately and provide a total score that ranges from 0 to 25 with higher scores indicating better quality of life.
Measured: The individual participants are followed with annual assessments until they reach the next age group version (up to 18 years) or until discontinuation or death.
Scale for the assessment and rating of ataxia (SARA) in adults
The Scale for the Assessment and Rating of Ataxia (SARA) is a clinical scale used to assess cerebellar ataxia in adults. The scale includes 8 items, related to gait, stance, sitting, speech, finger-chase test, nose-finger test, fast alternating movements and heel-shin test. The individual scores are summed to provide a total score that ranges from 0 to 40, higher scores indicate more severe ataxia.
Measured: The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
Disease progression
Disease progression as assessed by clinical examination and captured as HPO (Human Phenotype Ontology) Terms at each visit.
Measured: The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Sep 2022
- Study start1 Feb 2009
- Primary completionDec 2040 (estimated)
- Study completionDec 2040 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Mitochondrial DiseasesStudies 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
- 6,000 participants (estimated)
- Target duration
- 30 Years
Sponsor and investigators
- Lead sponsor
- LMU Klinikum
- Sponsor type
- University, hospital or other
- Collaborators
- European Commission, German Federal Ministry of Education and Research, University of Pisa
- Responsible party
- Principal investigator, Prof. Thomas Klopstock, LMU Klinikum
- Investigators
- Thomas Klopstock, Prof. Dr., Principal investigator, LMU Klinikum, MunichMichelangelo Mancuso, Prof. Dr., Principal investigator, Università di Pisa
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05554835
- Sponsor's protocol ID
- mitoGLOBAL
- Acronym
- GENOMIT
- Status last verified
- Aug 2026
- First submitted
- 11 Aug 2022
- Last updated
- 7 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Any data or results from the project can be shared upon written request with researchers. Data sharing requires approval by the respective scientific committee and their institutional review board.
Publications
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.
PubMed 33465056Stendel 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.
PubMed 32042921Ng 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.
PubMed 34146515Ng 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.
PubMed 32090171Mancuso 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.
PubMed 29074296
Study at a glance
From the registry record, last updated by the sponsor on 7 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Global Mitochondrial Registry to Define Natural History and Outcome Measures to Achieve Definite Trial Readiness for Mitochondrial Disorders
- ClinicalTrials.gov ID
- NCT05554835
- Acronym / sponsor ID
- GENOMIT / mitoGLOBAL
- Conditions
- Mitochondrial Diseases, Kearns-Sayre Syndrome, MIDD, SANDO, SCAE, NARP Syndrome
- Keywords
- Patient Registry
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 6,000 participants (estimated)
- Lead sponsor
- LMU KlinikumUniversity, hospital or other
- Collaborators
- European Commission, German Federal Ministry of Education and Research, University of Pisa
- Study start
- 1 Feb 2009 (actual)
- Primary completion
- Dec 2040 (estimated)
- Study completion
- Dec 2040 (estimated)
- First posted
- 26 Sep 2022 (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 main goal of the project is provision of a global registry for mitochondrial disorders to harmonize previous national registries, enable world-wide participation and facilitate natural history studies, definition of outcome measures and conduction of clinical trials.
Detailed description
The global mitochondrial registry and natural history study is part of the EU-financed GENOMIT project, co-ordinated by Dr. Holger Prokisch, Technische Universität München (TUM).It aims at advancing the understanding of the natural history of mitochondrial disease to inform the design and facilitate the conduction of clinical trials. It also serves as a catalyst for translating basic research results into clinical practice.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 30 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Mitochondrial patients | – | –Patients with a suspected or confirmed mitochondrial disease. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- All
Key inclusion criteria (2 listed)
- suspected or confirmed mitochondrial disease
- willingness to participate
Key exclusion criteria (1 listed)
- unwillingness to participate
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Newcastle Mitochondrial Disease Scale for Adults (NMDAS), Sections I-III
Time frame: The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
Newcastle Mitochondrial Disease Scale for Adults (NMDAS) is a clinical rating scale designed for mitochondrial disease. The rating scale explores several domains: current function, system specific involvement and current clinical assessment. The individual scores are summed to provide a total score that ranges from 0 to 145; higher scores indicate more severely affection.
Newcastle Pediatric Mitochondrial Disease Scale for Children (NPMDS)
Time frame: The individual participants are followed with annual assessments until they reach the next age group version (up to 18 years) or until discontinuation or death.
NPMDS is a clinical rating scale designed for mitochondrial disease in children. There are three versions of the NPMDS, each for a specific age range (0-24 months, 2-11 years, and 12-18 years). The rating scale explores several domains: current function (Section I), system specific involvement (Section II), current clinical assessment (Section III) and quality of life (QoL) assessments (Section IV). The individual scores in Section I-III are summed to provide a total score that ranges from 0 to 70 (version 0-24month) and 0-82 (versions 2-18 years); higher scores indicate more severely affection. Section IV (QoL) is scored separately and provide a total score that ranges from 0 to 25 with higher scores indicating better quality of life.
Scale for the assessment and rating of ataxia (SARA) in adults
Time frame: The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
The Scale for the Assessment and Rating of Ataxia (SARA) is a clinical scale used to assess cerebellar ataxia in adults. The scale includes 8 items, related to gait, stance, sitting, speech, finger-chase test, nose-finger test, fast alternating movements and heel-shin test. The individual scores are summed to provide a total score that ranges from 0 to 40, higher scores indicate more severe ataxia.
Disease progression
Time frame: The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
Disease progression as assessed by clinical examination and captured as HPO (Human Phenotype Ontology) Terms at each 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 7 Aug 2026.
- Background: PubMed 33465056Stenton 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.
- Background: PubMed 32042921Stendel 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.
- Background: PubMed 34146515Ng 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.
- Background: PubMed 32090171Ng 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.
- Background: PubMed 29074296Mancuso 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.
- Project websiteLink provided by the sponsor.
- mitoNET websiteLink provided by the sponsor.
- Mitocon websiteLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. Any data or results from the project can be shared upon written request with researchers. Data sharing requires approval by the respective scientific committee and their institutional review board.
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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.
Thomas Klopstock, Prof. Dr. principal investigator
LMU Klinikum, Munich
Michelangelo Mancuso, Prof. Dr. principal investigator
Università di Pisa
34 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Mitochondrial Diseases and Kearns-Sayre Syndrome, run by LMU Klinikum at 34 sites in 3 countries.
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 2 inclusion and 1 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 7 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 34 sites in Germany, Italy, Austria. 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 Boriana Büchner, Dr. (+49 89 4400 ext. 57067, boriana.buechner@med.uni-muenchen.de), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Newcastle Mitochondrial Disease Scale for Adults (NMDAS), Sections I-III (time frame: The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05554835, which also lists 5 linked publications.
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 7 Aug 2026.