The Natural History of Mitochondrial Diseases
NCT Number: NCT06504433
Status: RECRUITING
Study Type: OBSERVATIONAL
Conditions: Mitochondrial Diseases|Neurological Diseases or Conditions|Parkinson Disease|Genetic Disease
Interventions: DIAGNOSTIC_TEST: Confirmed variant/deletion in either nuclear or mitochondrial genes involved in the mitochondrial respiratory chain
Sponsor: Neuroscience Research Australia
Sex: ALL
Age: ADULT, OLDER_ADULT
Enrollment: 500
Study Design: Observational Model: |Time Perspective: p
Start Date: 2024-05-07
Completion Date: 2034-05-07
Locations: Neuroscience Research Australia, Randwick, New South Wales, 2031, Australia

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).

Primary Outcome Measures: Descriptive measures: The natural history of mitochondrial disease, The primary outcome measure is the creation of a clinical database and biospecimen repository (biobank) with medical, health and lifestyle data to characterise the natural history of mitochondrial disease for each MITO patient. Data will be stratified by disease genotype, phenotype, age of onset, sequence and timing of major symptom onset, severity and progression of organ involvement and symptom progression, to identify any associations between parameters., 10 years
Secondary Outcome Measures: The natural history of mitochondrial disease, The secondary outcomes will be the creation of a biospecimen repository (biobank) for biomarker discovery research to improve diagnosis, and disease progression and identify possible treatments. External collaborators, using ethics-approved protocols, may apply to access the biobank to analyse biospecimens for biomarkers, 10 years