500
Participants
Start Date
May 7, 2024
Primary Completion Date
May 7, 2029
Study Completion Date
May 7, 2034
Confirmed variant/deletion in either nuclear or mitochondrial genes involved in the mitochondrial respiratory chain
This is a 10-year, longitudinal, non-randomised, retrospective and prospective, observational study that will be used to characterise the natural history of primary mitochondrial disease (MITO) in 400 participants and their asymptomatic family members (with no genetic risk), non-MITO healthy controls (100 participants) and form a biobank that can be used in future research using separate ethics approved protocols to identify biomarkers of disease onset and progression.
RECRUITING
Neuroscience Research Australia, Randwick
Lead Sponsor
Neuroscience Research Australia
OTHER