Global Registry and Natural History Study for Mitochondrial Disorders

NCT05554835 | Recruiting

• 1 other identifier: mitoGLOBAL
• Study Type: observational
• Target: 6,000
• Locations: 3 countries
• Sites: 18

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.

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

Outcome Measures

Primary Outcomes (4)

• 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.

• 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.

• 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.

• 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.

Study Arms (1)

Mitochondrial patients

Patients with a suspected or confirmed mitochondrial disease.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

All

You may qualify if:

• suspected or confirmed mitochondrial disease
• willingness to participate

You may not qualify if:

• unwillingness to participate

Sponsors & Collaborators

• LMU Klinikum: lead
• European Commission: collaborator
• German Federal Ministry of Education and Research: collaborator
• University of Pisa: collaborator

Study Sites (18)

Medical University Innsbruck, Department of Pediatrics

Innsbruck, 6020, Austria

RECRUITING

Salzburger Landeskliniken, SALK, Paracelsus Medizinische Privatuniversität

Salzburg, 5020, Austria

RECRUITING

Department of neurology, Klinikum rechts der Isar, Technical University Munich

Munich, Bavaria, 81675, Germany

RECRUITING

Charité Virchow Klinikum, Klinik für Pädiatrie m. S. Neurologie

Berlin, 13353, Germany

RECRUITING

Universität Bonn, Klinik und Poliklinik für Neurologie

Bonn, Germany

RECRUITING

Universitätsklinikum Köln, Klinik und Poliklinik für Kinder- und Jugendmedizin

Cologne, 50931, Germany

RECRUITING

Universitätsklinikum Düsseldorf, Klinik für allgemeine Pädiatrie, Neonatologie und Kinderkardiologie

Düsseldorf, 40225, Germany

RECRUITING

Universitätsklinikum Frankfurt, Klinik für Kinder- und Jugendmedizin, Schwerpunkt Neurologie, Neurometabolik und Prävention

Frankfurt am Main, 60590, Germany

RECRUITING

University Medical Center Freiburg, Center for children and youth medicine

Freiburg im Breisgau, 79106, Germany

RECRUITING

Martin-Luther-Universität Halle-Wittenberg, Neurologische Klinik und Poliklinik

Halle, 06097, Germany

RECRUITING

Universitätsklinikum Hamburg Eppendorf Institut für Humangenetik

Hamburg, 20246, Germany

RECRUITING

Universitätsklinikum Hamburg Eppendorf, Klinik für Kinder-und Jugendmedizin

Hamburg, 20246, Germany

RECRUITING

Universitätsklinikum Hamburg Eppendorf, Klinik für Neurologie

Hamburg, 20246, Germany

RECRUITING

Universitätsklinikum Heidelberg, Zentrum für Kinder- und Jugendmedizin, Sektion für Neuropädiatrie und Stoffwechselmedizin

Heidelberg, 69120, Germany

RECRUITING

LMU Klinikum, Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

München, 80336, Germany

RECRUITING

Klinikum am Steinenberg, Kreiskliniken Reutlingen, Klinik für Kinder-und Jugendmedizin, Perinatal- u. Stoffwechselzentrum

Reutlingen, 72764, Germany

RECRUITING

Universitätsklinikum Tübingen, Neurologische Klinik und Hertie Institut für Klinische Hirnforschung

Tübingen, 72076, Germany

RECRUITING

Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa & AOUP

Pisa, Italy

RECRUITING

Related Publications (5)

• 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.

  PMID: 33465056 BACKGROUND

• 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.

  PMID: 32042921 BACKGROUND

• 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 BACKGROUND

• 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 BACKGROUND

• 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.

  PMID: 29074296 BACKGROUND

Related Links

• Project website
• mitoNET website
• Mitocon website

MeSH Terms

Conditions

Mitochondrial Diseases; Kearns-Sayre Syndrome; Ataxia Neuropathy Spectrum; Neuropathy ataxia and retinitis pigmentosa; MELAS Syndrome; MERRF Syndrome; Coenzyme Q10 Deficiency; Barth Syndrome; Mitochondrial Myopathies; Leigh Disease; VLCAD deficiency; Ophthalmoplegia, Chronic Progressive External

Condition Hierarchy (Ancestors)

Metabolic Diseases; Nutritional and Metabolic Diseases; Muscular Diseases; Musculoskeletal Diseases; Ophthalmoplegia; Ocular Motility Disorders; Cranial Nerve Diseases; Nervous System Diseases; Paralysis; Neurologic Manifestations; Neuromuscular Diseases; Eye Diseases; Retinitis Pigmentosa; Retinal Dystrophies; Retinal Degeneration; Retinal Diseases; Cardiomyopathies; Heart Diseases; Cardiovascular Diseases; Chronic Disease; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Signs and Symptoms; Mitochondrial Encephalomyopathies; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Myoclonic Epilepsies, Progressive; Epilepsies, Myoclonic; Epilepsy, Generalized; Epilepsy; Epileptic Syndromes; Heart Defects, Congenital; Cardiovascular Abnormalities; Abnormalities, Multiple; Congenital Abnormalities; Genetic Diseases, X-Linked; Lipid Metabolism, Inborn Errors; Lipid Metabolism Disorders; Pyruvate Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors

Study Officials

• Thomas Klopstock, Prof. Dr.

  LMU Klinikum, Munich

  PRINCIPAL INVESTIGATOR

• Michelangelo Mancuso, Prof. Dr.

  Università di Pisa

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Boriana Büchner, Dr.

CONTACT

+49 89 4400; boriana.buechner@med.uni-muenchen.de

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 30 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Prof. Dr. Thomas Klopstock

Study Record Dates

• First Submitted: August 11, 2022
• First Posted: September 26, 2022
• Study Start: February 1, 2009
• Primary Completion (Estimated): December 1, 2040
• Study Completion (Estimated): December 1, 2040
• Last Updated: June 5, 2025

Record last verified: 2025-06

Data Sharing

• IPD Sharing: Will share
• Shared Documents: ICF
• Time Frame: Time frame for data usage needs to be specified in the proposal for data sharing.
• Access Criteria: Approved written proposal including the description of the research plan and data usage purpose.

Locations

IT (1); AU (2); DE (15)