[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100554849":3},{"organization":4,"armGroups":7,"interventions":22,"overallOfficials":28,"centralContacts":33,"locations":43,"responsibleParty":66,"collaborators":10,"id":68,"slug":69,"hasResults":70,"nctId":71,"briefTitle":72,"officialTitle":72,"acronym":10,"eligibilityCriteria":73,"healthyVolunteers":74,"sex":75,"minAge":76,"maxAge":10,"enrollmentInfo":77,"targetDuration":80,"studyType":81,"phases":10,"briefSummary":82,"conditions":83,"keywords":10,"overallStatus":45,"whyStopped":10,"lastUpdateSubmitDate":87,"lastUpdatePostDateStruct":88,"startDateStruct":91,"completionDateStruct":93,"leadSponsor":95,"locationsCount":96},{"fullName":5,"class":6},"Neuroscience Research Australia","OTHER",[8,14,18],{"label":9,"type":10,"description":11,"interventionNames":12},"MITO participants\u002Fpatients",null,"400 MITO patients will be observed over 10 years and having a confirmed variant\u002Fdeletion in either nuclear or mitochondrial genes involved in the mitochondrial respiratory chain, or patients meeting the clinical diagnostic criteria for MITO using consensus scoring systems such as the Walker Criteria, or the Nijmegen criteria",[13],"Diagnostic Test: Confirmed variant\u002Fdeletion in either nuclear or mitochondrial genes involved in the mitochondrial respiratory chain",{"label":15,"type":10,"description":16,"interventionNames":17},"Patients with a clinically confirmed non-MITO neuromuscular disorder","The study will form a 10-year, longitudinal, non-randomised, retrospective, and prospective, observational study of patients with MITO using controls who may be:\n\n* asymptomatic biological relatives of MITO participants\u002Fpatients\n* patients with a clinically confirmed non-MITO neuromuscular disorder, or",[13],{"label":19,"type":10,"description":20,"interventionNames":21},"Age and gender-matched healthy controls.","Age\u002Fgender-matched healthy controls will be recruited from the NeuRA database of volunteers",[13],[23],{"type":24,"name":25,"description":26,"armGroupLabels":27,"otherNames":10},"DIAGNOSTIC_TEST","Confirmed variant\u002Fdeletion 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.",[19,9,15],[29],{"name":30,"affiliation":31,"role":32},"Carolyn M Sue, MBBS","Kinghorn Chair, Neuroscience Research Australia","PRINCIPAL_INVESTIGATOR",[34,39],{"name":35,"role":36,"phone":37,"phoneExt":10,"email":38},"Belinda Di Bartolo","CONTACT","61 2 9399 1835","b.dibartolo@neura.edu.au",{"name":40,"role":36,"phone":41,"phoneExt":10,"email":42},"Vyoma Patel, PhD","+6123991676","v.patel@neura.edu.au",[44],{"facility":5,"status":45,"city":46,"state":47,"zip":48,"country":49,"countryCode":50,"cosmosGeoPoint":51,"geoPoint":56,"contacts":57},"RECRUITING","Randwick","New South Wales","2031","Australia","AU",{"type":52,"coordinates":53},"Point",[54,55],151.24895,-33.91439,{"lat":55,"lon":54},[58,62],{"name":59,"role":36,"phone":60,"phoneExt":10,"email":61},"Carolyn M Sue, FRACP","61293991835","c.sue@neura.edu.au",{"name":63,"role":36,"phone":64,"phoneExt":10,"email":65},"Judith S Walker, PhD","0293991081","j.walker@neura.edu.au",{"type":67,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR","100554849","the-natural-history-of-mitochondrial-diseases-100554849",false,"NCT06504433","The Natural History of Mitochondrial Diseases","Inclusion Criteria:\n\n1. A clinical and\u002For genetically confirmed diagnosis of MITO.\n2. Individuals \\> 18 years of age, managed by a specialist neurologist, with confirmed MITO\n3. 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\u002Fgender-matched healthy participants.\n\nExclusion Criteria:\n\n* Those participants who do NOT match the inclusion criteria above\n* Not willing to participate in the AMDC Clinical Registry\n* Not willing to undergo genetic testing\n* Not willing to provide consent",true,"ALL","18 Years",{"count":78,"type":79},500,"ESTIMATED","10 Years","OBSERVATIONAL","The Natural History of Mitochondrial (MITO) Diseases (a longitudinal study observing the natural history of mitochondrial diseases)\n\nThe goal of this observational study (non-randomised retrospective and prospective) is to fully characterise primary MITO disease; that includes both sexes\u002Fgenders, over 18 years of age and healthy volunteers\\]. The main question\\[s\\] it aims to answer is to:\n\n• 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.\n\nThe 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.\n\nThe 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\u002For (iii) age-matched healthy controls recruited from the NeuRA database of volunteers.\n\nDemographic 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).",[84,85,86],"Mitochondrial Diseases","Neurological Diseases or Conditions","Genetic Disease","2026-04-15",{"date":89,"type":90},"2026-04-20","ACTUAL",{"date":92,"type":90},"2024-05-07",{"date":94,"type":79},"2034-05-07",{"name":5,"class":6},1]