RecruitingNCT06504433

The Natural History of Mitochondrial Diseases

Sponsor

Neuroscience Research Australia

Enrollment

500 participants

Start Date

May 7, 2024

Study Type

OBSERVATIONAL

Conditions

Genetic Disease Parkinson Disease Mitochondrial Diseases Neurological Diseases or Conditions

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

Min Age: 18 Years

Inclusion Criteria6

A clinical and/or genetically confirmed diagnosis of MITO.
Individuals \> 18 years of age, managed by a specialist neurologist, with confirmed MITO
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.
Not willing to participate in the AMDC Clinical Registry
Not willing to undergo genetic testing
Not willing to provide consent

Interventions

DIAGNOSTIC_TESTConfirmed 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.