Clinical trial NCT05554835: Global Registry and Natural History Study for Mitochondrial Disorders
Official title: Global Mitochondrial Registry to Define Natural History and Outcome Measures to Achieve Definite Trial Readiness for Mitochondrial Disorders
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Mitochondrial Diseases
Kearns-Sayre Syndrome
MIDD
SANDO
SCAE
NARP Syndrome
MELAS Syndrome
MERRF Syndrome
Coenzyme Q10 Deficiency
LHON
MNGIE
MIRAS
Barth Syndrome
MDS
Mitochondrial Myopathies
Leigh Syndrome
Pearson Syndrome
CPEO
Keywords: Patient Registry
Lead sponsor: LMU Klinikum
Sponsor class: OTHER
Collaborators: name: European Commission
name: German Federal Ministry of Education and Research
name: University of Pisa
First posted: 2022-09-26
Enrollment: 6000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: All

Brief 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.

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.

Eligibility criteria: Inclusion Criteria:

* suspected or confirmed mitochondrial disease
* willingness to participate

Exclusion Criteria:

* unwillingness to participate

Primary outcomes:
measure: Newcastle Mitochondrial Disease Scale for Adults (NMDAS), Sections I-III
timeFrame: The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
measure: Newcastle Pediatric Mitochondrial Disease Scale for Children (NPMDS)
timeFrame: 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.
measure: Scale for the assessment and rating of ataxia (SARA) in adults
timeFrame: The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
measure: Disease progression
timeFrame: The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
Secondary outcomes:
Other outcomes:
Locations:
city: Innsbruck
country: Austria
facility: Medical University Innsbruck, Department of Pediatrics
city: Salzburg
country: Austria
facility: Salzburger Landeskliniken, SALK, Paracelsus Medizinische Privatuniversität
city: Munich
country: Germany
facility: Department of neurology, Klinikum rechts der Isar, Technical University Munich
state: Bavaria
city: Berlin
country: Germany
facility: Charité Virchow Klinikum, Klinik für Pädiatrie m. S. Neurologie
city: Bonn
country: Germany
facility: Universität Bonn, Klinik und Poliklinik für Neurologie
city: Düsseldorf
country: Germany
facility: Universitätsklinikum Düsseldorf, Klinik für allgemeine Pädiatrie, Neonatologie und Kinderkardiologie
city: Frankfurt am Main
country: Germany
facility: Universitätsklinikum Frankfurt, Klinik für Kinder- und Jugendmedizin, Schwerpunkt Neurologie, Neurometabolik und Prävention
city: Freiburg
country: Germany
facility: University Medical Center Freiburg, Center for children and youth medicine
city: Halle/Saale
country: Germany
facility: Martin-Luther-Universität Halle-Wittenberg, Neurologische Klinik und Poliklinik
city: Hamburg
country: Germany
facility: Universitätsklinikum Hamburg Eppendorf Institut für Humangenetik
city: Hamburg
country: Germany
facility: Universitätsklinikum Hamburg Eppendorf, Klinik für Kinder-und Jugendmedizin
city: Hamburg
country: Germany
facility: Universitätsklinikum Hamburg Eppendorf, Klinik für Neurologie
city: Heidelberg
country: Germany
facility: Universitätsklinikum Heidelberg, Zentrum für Kinder- und Jugendmedizin, Sektion für Neuropädiatrie und Stoffwechselmedizin
city: Köln
country: Germany
facility: Universitätsklinikum Köln, Klinik und Poliklinik für Kinder- und Jugendmedizin
city: München
country: Germany
facility: LMU Klinikum, Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik
city: Reutlingen
country: Germany
facility: Klinikum am Steinenberg, Kreiskliniken Reutlingen, Klinik für Kinder-und Jugendmedizin, Perinatal- u. Stoffwechselzentrum
city: Tübingen
country: Germany
facility: Universitätsklinikum Tübingen, Neurologische Klinik und Hertie Institut für Klinische Hirnforschung
city: Pisa
country: Italy
facility: Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa & AOUP
Study officials:
affiliation: LMU Klinikum, Munich
name: Thomas Klopstock, Prof. Dr.
role: PRINCIPAL_INVESTIGATOR
affiliation: Università di Pisa
name: Michelangelo Mancuso, Prof. Dr.
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
citation: 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.
citation: 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.
citation: 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.
citation: 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.