The Natural History of Mitochondrial Diseases
Recruiting now
Conditions studied: Mitochondrial Diseases, Neurological Diseases or Conditions, Genetic Disease
In brief
The Natural History of Mitochondrial (MITO) Diseases (a longitudinal study observing the natural history of mitochondrial diseases) The goal of this observational study (non-randomised retrospective and prospective) is to fully characterise primary MITO disease; that includes both sexes/genders, over 18 years of age and healthy volunteers\]. The main question\[s\] it aims to answer is to: • better characterise MITO phenotypes (organ involvement, severity, progression) and collect biospecimens to create a biobank that can be used for future biomarker discovery to improve early diagnosis, prognostication and management of mitochondrial disease. The study will be a longitudinal, retrospective, prospective, observational study of participants (400) with confirmed MITO and relevant controls followed for up to 10 years. Data will be collected at regularly scheduled standard-of-care (SOC), 6 to 12 monthly appointments. The 100 control participants will therefore be comprised of (i) unaffected asymptomatic family members of MITO participants with no genetic risk; (ii) participants with non-MITO movement disorders that are not classified as MITO by their clinical presentation and genetic tests (for example Parkinson's disease) and/or (iii) age-matched healthy controls recruited from the NeuRA database of volunteers. Demographic data, medical history, biochemical, histological, genetic, social and other clinical SOC data will be collected. Additionally, seizure and migraine frequency in participants who experience these, will be collected and a quality-of-life questionnaire (SF-12v2), as part of the validated neurological assessment using the Newcastle Mitochondrial Disease Adult Scale (NMDAS).
Key facts
- Study ID
- NCT06504433
- Run by
- Neuroscience Research Australia
- People needed
- 500
- Starts
- 2024-05-07
- Expected to finish
- 2034-05-07
- Last updated by the study team
- 2026-04-20
Who can join
Age: 18 and older. Sex: any. Healthy volunteers: accepted.
You may qualify if…
- A clinical and/or genetically confirmed diagnosis of MITO.
- Individuals > 18 years of age, managed by a specialist neurologist, with confirmed MITO
- Control participants will comprise asymptomatic relatives of confirmed MITO patients with no clinical or genetic evidence of MITO; clinically confirmed non-MITO movement disease controls (from other clinics at NeuRA) or age/gender-matched healthy participants.
You may not qualify if…
- Those participants who do NOT match the inclusion criteria above
- Not willing to participate in the AMDC Clinical Registry
- Not willing to undergo genetic testing
- Not willing to provide consent
Where it is running
- Neuroscience Research Australia — Randwick, New South Wales, Australia (enrolling)
Full record on ClinicalTrials.gov
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