The Natural History of Mitochondrial Diseases
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorNeuroscience Research Australia
About this trial
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 criteria
This trial accepts healthy volunteersQualifiers
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.
Disqualifiers
Those participants who do NOT match the inclusion criteria above
Not willing to participate in the AMDC Clinical Registry
Not willing to undergo genetic testing
Not willing to provide consent
Trial population
Participants (at least 400) with confirmed MITO (on genetic/clinical grounds) will be recruited into this study through NeuRA, Randwick, NSW by CI/CPI Professor Carolyn Sue AM FAHMS. The study will recruit 100 control participants who may be: i. age and gender-matched healthy controls from the NeuRA database of volunteers; ii. asymptomatic relatives of MITO participants or iii. non-MITO movement disorder controls recruited from other clinics at NeuRA.
Trial design
Design model
Case-control
Time perspective
Prospective
Treatments tested in this trial
Confirmed variant/deletion in either nuclear or mitochondrial genes involved in the mitochondrial respiratory chain
Diagnostic testThis 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.
Treatment groups
500 Participants
are divided into 3 treatment groupsGroup A: MITO participants/patients1 intervention
Group B: Patients with a clinically confirmed non-MITO neuromuscular disorder1 intervention
Group C: Age and gender-matched healthy controls.1 intervention
Trial outcomes
Primary outcomes
1
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.
Time frame
10 yearsSecondary outcomes
1
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
Time frame
10 yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Source ClinicalTrials.gov