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The Natural History of Mitochondrial Diseases

Recruitingn/aAges 18 Years - anyAllNeuroscience Research Australia
NCT06504433 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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

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📋 Eligibility rules (as published)
Inclusion Criteria: 1. A clinical and/or genetically confirmed diagnosis of MITO. 2. Individuals \> 18 years of age, managed by a specialist neurologist, with confirmed MITO 3. 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. Exclusion Criteria: * 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
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What it tests

  • Confirmed variant/deletion in either nuclear or mitochondrial genes involved in the mitochondrial respiratory chain
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Where

1 site
Neuroscience Research Australia
Randwick, Australia
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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