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 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

Plain Language Summary

Simplified for easier understanding

This study tracks the health of adults living with mitochondrial disease (a genetic condition that affects how cells produce energy) over time. The goal is to understand how the disease progresses and to build a better picture of what symptoms and changes occur. Healthy relatives and people with other movement disorders can also participate as comparison groups. **You may be eligible if...** - You are 18 or older with a clinically or genetically confirmed mitochondrial disease - You are managed by a specialist neurologist - You are willing to have genetic testing and join a clinical registry - Relatives of patients without mitochondrial disease, or people with other movement disorders, may also be eligible as controls **You may NOT be eligible if...** - You are unwilling to participate in the registry, undergo genetic testing, or provide consent - You do not meet the clinical or genetic criteria for mitochondrial disease (for the patient group) Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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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.