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The Natural History of Mitochondrial Diseases

NCT06504433 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 500

Last updated 2026-04-20

No results posted yet for this study

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).

Conditions

  • Mitochondrial Diseases
  • Neurological Diseases or Conditions
  • Genetic Disease

Interventions

DIAGNOSTIC_TEST

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.

Sponsors & Collaborators

  • Neuroscience Research Australia

    lead OTHER

Principal Investigators

  • Carolyn M Sue, MBBS · Kinghorn Chair, Neuroscience Research Australia

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2024-05-07
Primary Completion
2029-05-07
Completion
2034-05-07

Countries

  • Australia

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06504433 on ClinicalTrials.gov