Global Registry and Natural History Study for Mitochondrial Disorders

Study Overview
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Brief Summary
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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
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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.

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

Conditions
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MIDD, Mitochondrial Diseases, Kearns-Sayre Syndrome, SANDO, SCAE, NARP Syndrome, MELAS Syndrome, MERRF Syndrome, Coenzyme Q10 Deficiency, LHON, MNGIE, MIRAS, Barth Syndrome, MDS, Mitochondrial Myopathies, Leigh Syndrome, Pearson Syndrome, CPEO

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: suspected or confirmed mitochondrial disease willingness to participate Exclusion Criteria: unwillingness to participate
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Mitochondrial patients<br>Patients with a suspected or confirmed mitochondrial disease. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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. | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Patient Registry