NCT06504433 The Natural History of Mitochondrial Diseases
| NCT ID | NCT06504433 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Neuroscience Research Australia |
| Condition | Mitochondrial Diseases |
| Study Type | OBSERVATIONAL |
| Enrollment | 500 participants |
| Start Date | 2024-05-07 |
| Primary Completion | 2029-05-07 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 500 participants in total. It began in 2024-05-07 with a primary completion date of 2029-05-07.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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).
Eligibility Criteria
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
Contact & Investigator
Carolyn M Sue, MBBS
PRINCIPAL INVESTIGATOR
Kinghorn Chair, Neuroscience Research Australia
Frequently Asked Questions
Who can join the NCT06504433 clinical trial?
This trial is open to participants of all sexes, aged 18 Years or older, studying Mitochondrial Diseases. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06504433 currently recruiting?
Yes, NCT06504433 is actively recruiting participants. Contact the research team at b.dibartolo@neura.edu.au for enrollment information.
Where is the NCT06504433 trial being conducted?
This trial is being conducted at Randwick, Australia.
Who is sponsoring the NCT06504433 clinical trial?
NCT06504433 is sponsored by Neuroscience Research Australia. The principal investigator is Carolyn M Sue, MBBS at Kinghorn Chair, Neuroscience Research Australia. The trial plans to enroll 500 participants.