Global Registry and Natural History Study for Mitochondrial Disorders
Study Details
Study Description
Brief Summary
The main goal of the project is provison 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.
Condition or Disease | Intervention/Treatment | Phase |
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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:
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German network for mitochondrial diseases - mitoNET, Germany/Austria
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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
Arms and Interventions
Arm | Intervention/Treatment |
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Mitochondrial patients Patients with a suspected or confirmed mitochondrial disease. |
Outcome Measures
Primary Outcome Measures
- Newcastle Mitochondrial Disease Scale for Adults (NMDAS), Sections I-III [The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discountinuation 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) [The individual participants are followed with annual assessments until they reach the next age group version (up to 18 years) or until discountinuation 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 [The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discountinuation 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 [The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discountinuation or death.]
Disease progression as assessed by clinical examination and captured as HPO (Human Phenotype Ontology) Terms at each visit.
Eligibility Criteria
Criteria
Inclusion Criteria:
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suspected or confirmed mitochondrial disease
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willingness to participate
Exclusion Criteria:
- unwillingness to participate
Contacts and Locations
Locations
Site | City | State | Country | Postal Code | |
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1 | Medical University Innsbruck, Department of Pediatrics | Innsbruck | Austria | 6020 | |
2 | Salzburger Landeskliniken, SALK, Paracelsus Medizinische Privatuniversität | Salzburg | Austria | 5020 | |
3 | Charité Virchow Klinikum, Klinik für Pädiatrie m. S. Neurologie | Berlin | Germany | 13353 | |
4 | Universität Bonn, Klinik und Poliklinik für Neurologie | Bonn | Germany | ||
5 | Universitätsklinikum Düsseldorf, Klinik für allgemeine Pädiatrie, Neonatologie und Kinderkardiologie | Düsseldorf | Germany | 40225 | |
6 | Universitätsklinikum Frankfurt, Klinik für Kinder- und Jugendmedizin, Schwerpunkt Neurologie, Neurometabolik und Prävention | Frankfurt am Main | Germany | 60590 | |
7 | University Medical Center Freiburg, Center for children and youth medicine | Freiburg | Germany | 79106 | |
8 | Martin-Luther-Universität Halle-Wittenberg, Neurologische Klinik und Poliklinik | Halle/Saale | Germany | 06097 | |
9 | Universitätsklinikum Hamburg Eppendorf Institut für Humangenetik | Hamburg | Germany | 20246 | |
10 | Universitätsklinikum Hamburg Eppendorf, Klinik für Kinder-und Jugendmedizin | Hamburg | Germany | 20246 | |
11 | Universitätsklinikum Hamburg Eppendorf, Klinik für Neurologie | Hamburg | Germany | 20246 | |
12 | Universitätsklinikum Heidelberg, Zentrum für Kinder- und Jugendmedizin, Sektion für Neuropädiatrie und Stoffwechselmedizin | Heidelberg | Germany | 69120 | |
13 | Universitätsklinikum Köln, Klinik und Poliklinik für Kinder- und Jugendmedizin | Köln | Germany | 50931 | |
14 | LMU Klinikum, Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik | München | Germany | 80336 | |
15 | Universitätsklinikum Münster, Klinik für Neurologie | Münster | Germany | 48149 | |
16 | Klinikum am Steinenberg, Kreiskliniken Reutlingen, Klinik für Kinder-und Jugendmedizin, Perinatal- u. Stoffwechselzentrum | Reutlingen | Germany | 72764 | |
17 | Universitätsklinikum Tübingen, Neurologische Klinik und Hertie Institut für Klinische Hirnforschung | Tübingen | Germany | 72076 | |
18 | Universitätsklinikum Ulm, Neuromuskuläre Ambulanz, Neurologische Hochschulambulanz im RKU | Ulm | Germany | 89081 | |
19 | Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa & AOUP | Pisa | Italy |
Sponsors and Collaborators
- LMU Klinikum
- European Commission
- German Federal Ministry of Education and Research
- University of Pisa
Investigators
- Principal Investigator: Thomas Klopstock, Prof. Dr., LMU Klinikum, Munich
- Principal Investigator: Michelangelo Mancuso, Prof. Dr., Università di Pisa
Study Documents (Full-Text)
None provided.More Information
Additional Information:
Publications
- 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.
- 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.
- 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.
- 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.
- 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.
- mitoGLOBAL