Global Registry and Natural History Study for Mitochondrial Disorders

MDS Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05554835
• Other study ID #: mitoGLOBAL
• Status: Recruiting
• Start date: February 1, 2009
• Est. completion date: December 2040

Study information

• Verified date: December 2023
• Source: LMU Klinikum
• Contact: Boriana Büchner, Dr.
• Phone: +49 89 4400
• Email: boriana.buechner[@]med.uni-muenchen.de
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 6000
• Est. completion date: December 2040
• Est. primary completion date: December 2040
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• suspected or confirmed mitochondrial disease

• willingness to participate

Exclusion Criteria:

• unwillingness to participate

Related Conditions & MeSH terms

• Barth Syndrome
• Kearns-Sayre Syndrome
• Leigh Disease
• Leigh Syndrome
• LHON
• MDS
• MELAS Syndrome
• MIDD
• Mitochondrial Diseases
• Mitochondrial Myopathies
• MNGIE
• NARP Syndrome
• Pearson Syndrome
• Syndrome

Locations

Country	Name	City	State
Austria	Medical University Innsbruck, Department of Pediatrics	Innsbruck
Austria	Salzburger Landeskliniken, SALK, Paracelsus Medizinische Privatuniversität	Salzburg
Germany	Charité Virchow Klinikum, Klinik für Pädiatrie m. S. Neurologie	Berlin
Germany	Universität Bonn, Klinik und Poliklinik für Neurologie	Bonn
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
Germany	Martin-Luther-Universität Halle-Wittenberg, Neurologische Klinik und Poliklinik	Halle/Saale
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	Universitätsklinikum Köln, Klinik und Poliklinik für Kinder- und Jugendmedizin	Köln
Germany	LMU Klinikum, Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik	München
Germany	Department of neurology, Klinikum rechts der Isar, Technical University Munich	Munich	Bavaria
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
Italy	Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa & AOUP	Pisa

Sponsors (4)

Lead Sponsor	Collaborator
LMU Klinikum	European Commission, German Federal Ministry of Education and Research, University of Pisa

Countries where clinical trial is conducted

Austria,  Germany,  Italy, 

References & Publications (5)

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. — View 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. — View 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. — View 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. — View 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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.	The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
Primary	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.	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.
Primary	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.	The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
Primary	Disease progression	Disease progression as assessed by clinical examination and captured as HPO (Human Phenotype Ontology) Terms at each visit.	The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.

External Links

•   Mitocon website
•   mitoNET website
•   Project website