Observing the natural history of mitochondrial diseases
The Natural History of Mitochondrial Diseases
This study is tracking 400 people with mitochondrial diseases and 100 healthy individuals over 10 years to see how the disease affects them and to help improve future diagnosis and treatment.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 500 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Neuroscience Research Australia Academic / other |
| Locations | 1 site (Randwick, New South Wales) |
| Trial ID | NCT06504433 on ClinicalTrials.gov |
What this trial studies
This observational study aims to characterize the natural history of primary mitochondrial diseases by following 400 participants with confirmed MITO and 100 control participants over a period of up to 10 years. The study will collect data at regular appointments to assess organ involvement, severity, and progression of the disease. Additionally, biospecimens will be gathered to create a biobank for future biomarker discovery, which could enhance early diagnosis and management of mitochondrial diseases. The study includes both retrospective and prospective components to provide a comprehensive understanding of these conditions.
Who should consider this trial
Good fit: Ideal candidates include individuals over 18 years of age with a clinical and/or genetically confirmed diagnosis of mitochondrial disease.
Not a fit: Patients who do not meet the inclusion criteria or are unwilling to participate in genetic testing may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved early diagnosis and management strategies for patients with mitochondrial diseases.
How similar studies have performed: While there have been studies on mitochondrial diseases, this specific longitudinal observational approach focusing on natural history and biobanking is relatively novel.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Randwick, New South Wales
- Neuroscience Research Australia — Randwick, New South Wales, Australia (Recruiting)
Study contacts
- Principal investigator: Carolyn M Sue, MBBS — Kinghorn Chair, Neuroscience Research Australia
- Study coordinator: Belinda Di Bartolo
- Email: b.dibartolo@neura.edu.au
- Phone: 61 2 9399 1835
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.