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.
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 Type
OBSERVATIONAL
Enrollment
6,000
Medical University Innsbruck, Department of Pediatrics
Innsbruck, Austria
RECRUITINGSalzburger Landeskliniken, SALK, Paracelsus Medizinische Privatuniversität
Salzburg, Austria
RECRUITINGDepartment of neurology, Klinikum rechts der Isar, Technical University Munich
Munich, Bavaria, Germany
RECRUITINGCharité Virchow Klinikum, Klinik für Pädiatrie m. S. Neurologie
Berlin, Germany
RECRUITINGUniversität Bonn, Klinik und Poliklinik für Neurologie
Bonn, Germany
RECRUITINGUniversitätsklinikum Köln, Klinik und Poliklinik für Kinder- und Jugendmedizin
Cologne, Germany
RECRUITINGUniversitätsklinikum Düsseldorf, Klinik für allgemeine Pädiatrie, Neonatologie und Kinderkardiologie
Düsseldorf, Germany
RECRUITINGUniversitätsklinikum Frankfurt, Klinik für Kinder- und Jugendmedizin, Schwerpunkt Neurologie, Neurometabolik und Prävention
Frankfurt am Main, Germany
RECRUITINGUniversity Medical Center Freiburg, Center for children and youth medicine
Freiburg im Breisgau, Germany
RECRUITINGMartin-Luther-Universität Halle-Wittenberg, Neurologische Klinik und Poliklinik
Halle, Germany
RECRUITING...and 8 more locations
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.
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)
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.
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
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.
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
Disease progression as assessed by clinical examination and captured as HPO (Human Phenotype Ontology) Terms at each visit.
Time frame: The individual participants are followed with annual assessments over a long time period (up to 30 years) or until discontinuation or death.
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