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Recruiting NCT05554835

Global Registry and Natural History Study for Mitochondrial Disorders

— Observational Mitochondrial Diseases Kearns-Sayre Syndrome MIDD SANDO

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: Mitochondrial Diseases, Kearns-Sayre Syndrome, MIDD, SANDO. Basic parameters: No limits · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
Austria, Germany, Italy
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

Global Mitochondrial Registry to Define Natural History and Outcome Measures to Achieve Definite Trial Readiness for Mitochondrial Disorders

Overview

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.

Primary outcome measures

  • 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 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.]
  • 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.]
  • 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.]

Eligibility criteria

Inclusion criteria

  • suspected or confirmed mitochondrial disease
  • willingness to participate

Exclusion criteria

  • unwillingness to participate

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

Germany · 16 centers
  • Department of Neurology, Klinikum Rechts der Isar, Technical University Munich — Munich
  • Charité Virchow Klinikum, Klinik für Pädiatrie m. S. Neurologie — Berlin
  • Universität Bonn, Klinik und Poliklinik für Neurologie — Bonn
  • Universitätsklinikum Köln, Klinik und Poliklinik für Kinder- und Jugendmedizin — Cologne
  • Universitätsklinikum Düsseldorf, Klinik für allgemeine Pädiatrie, Neonatologie und Kinderk — Düsseldorf
  • Universitätsklinikum Frankfurt, Klinik für Kinder- und Jugendmedizin, Schwerpunkt Neurolog — Frankfurt am Main
  • University Medical Center Freiburg, Center for children and youth medicine — Freiburg im Breisgau
  • Universitätsklinik und Poliklinik für Neurologie Universitätsmedizin Halle — Halle
  • … and 8 more centers
Italy · 16 centers
  • Sant'Orsola-Malpighi University Hospital — Bologna
  • University of Bologna — Bologna
  • University of Bologna — Bologna
  • Nemo Clinical Center — Brescia
  • University of Cagliari — Cagliari
  • AOU Meyer IRCCS Children's Hospital — Florence
  • Giannina Gaslini Children's Hospital — Genova
  • University Hospital G. Martino — Messina
  • … and 8 more centers
Austria · 2 centers
  • Medical University Innsbruck, Department of Pediatrics — Innsbruck
  • Salzburger Landeskliniken, SALK, Paracelsus Medizinische Privatuniversität — Salzburg

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, Ma PMID 33465056
  • 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 1 PMID 32042921
  • 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. PMID 34146515
  • 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. PMID 32090171
  • 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 abs PMID 29074296

Identifiers

NCT: NCT05554835 · mitoGLOBAL

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗