Global Registry and Natural History Study for Mitochondrial Disorders

Condition(s) studied

Study 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.

Eligibility

Primary outcome measure(s)

• 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 sites (34)

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