Global Registry and Natural History Study for Mitochondrial Disorders

Recruiting

• Conditions: Mitochondrial Diseases; SANDO; Coenzyme Q10 Deficiency; MDS; Mitochondrial Myopathies; Pearson Syndrome; MIDD; SCAE; NARP Syndrome; MNGIE

• Registration Number: NCT05554835
• Lead Sponsor: LMU Klinikum

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.

Study Timeline

• Study Start: 2009-02-01
• Study First Submitted: 2022-08-11
• Study First Submitted QC: 2022-09-23
• Study First Posted: 2022-09-26
• Status Verified: 2023-12
• Last Update Submitted: 2023-12-15
• Last Update Posted: 2023-12-21
• Primary Completion: 2040-12
• Study Completion: 2040-12

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 6000

Inclusion Criteria

• suspected or confirmed mitochondrial disease
• willingness to participate

Exclusion Criteria

• unwillingness to participate

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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 discontinuation 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 discontinuation 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 discontinuation 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 discontinuation or death.	Disease progression as assessed by clinical examination and captured as HPO (Human Phenotype Ontology) Terms at each visit.

Trial Locations

Locations (18)

Universitätsklinikum Hamburg Eppendorf Institut für Humangenetik; 🇩🇪 Hamburg, Germany

Department of neurology, Klinikum rechts der Isar, Technical University Munich; 🇩🇪 Munich, Bavaria, Germany

Medical University Innsbruck, Department of Pediatrics; 🇦🇹 Innsbruck, Austria

Salzburger Landeskliniken, SALK, Paracelsus Medizinische Privatuniversität; 🇦🇹 Salzburg, Austria

Charité Virchow Klinikum, Klinik für Pädiatrie m. S. Neurologie; 🇩🇪 Berlin, Germany

Universitätsklinikum Düsseldorf, Klinik für allgemeine Pädiatrie, Neonatologie und Kinderkardiologie; 🇩🇪 Düsseldorf, Germany

Universität Bonn, Klinik und Poliklinik für Neurologie; 🇩🇪 Bonn, Germany

University Medical Center Freiburg, Center for children and youth medicine; 🇩🇪 Freiburg, Germany

Universitätsklinikum Frankfurt, Klinik für Kinder- und Jugendmedizin, Schwerpunkt Neurologie, Neurometabolik und Prävention; 🇩🇪 Frankfurt am Main, Germany

Universitätsklinikum Heidelberg, Zentrum für Kinder- und Jugendmedizin, Sektion für Neuropädiatrie und Stoffwechselmedizin; 🇩🇪 Heidelberg, Germany

Universitätsklinikum Hamburg Eppendorf, Klinik für Kinder-und Jugendmedizin; 🇩🇪 Hamburg, Germany

Martin-Luther-Universität Halle-Wittenberg, Neurologische Klinik und Poliklinik; 🇩🇪 Halle/Saale, Germany

Universitätsklinikum Hamburg Eppendorf, Klinik für Neurologie; 🇩🇪 Hamburg, Germany

Universitätsklinikum Tübingen, Neurologische Klinik und Hertie Institut für Klinische Hirnforschung; 🇩🇪 Tübingen, Germany

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

Universitätsklinikum Köln, Klinik und Poliklinik für Kinder- und Jugendmedizin; 🇩🇪 Köln, Germany

Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa & AOUP; 🇮🇹 Pisa, Italy

LMU Klinikum, Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik; 🇩🇪 München, Germany