Observing the natural history of mitochondrial diseases

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.