[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100458496":3},{"organization":4,"armGroups":7,"interventions":10,"overallOfficials":15,"centralContacts":19,"locations":27,"responsibleParty":45,"collaborators":47,"id":58,"slug":59,"hasResults":60,"nctId":61,"briefTitle":62,"officialTitle":62,"acronym":10,"eligibilityCriteria":63,"healthyVolunteers":64,"sex":65,"minAge":66,"maxAge":67,"enrollmentInfo":68,"targetDuration":71,"studyType":72,"phases":10,"briefSummary":73,"conditions":74,"keywords":76,"overallStatus":29,"whyStopped":10,"lastUpdateSubmitDate":84,"lastUpdatePostDateStruct":85,"startDateStruct":88,"completionDateStruct":90,"leadSponsor":92,"locationsCount":93},{"fullName":5,"class":6},"Children's Hospital of Philadelphia","OTHER",[8,12],{"label":9,"type":10,"description":11,"interventionNames":10},"Primary Mitochondrial Myopathy",null,"Patients with a mitochondrial disorder established by confirmed genetic or biochemical mutation in mtDNA or nuclear DNA or is suitable for participation in the opinion of the investigator based on clinical presentation and exhibits myopathy (exercise intolerance, muscle strength, fatigue) relating to mitochondrial disease.",{"label":13,"type":10,"description":14,"interventionNames":10},"Healthy Controls","Males or females age 0-100 years of age with no history of mitochondrial myopathy symptoms.",[16],{"name":17,"affiliation":5,"role":18},"Zarazuela Zolkipli-Cunningham, MBChB","PRINCIPAL_INVESTIGATOR",[20,25],{"name":21,"role":22,"phone":23,"phoneExt":10,"email":24},"Katelynn Stanley, BS","CONTACT","267 426 4961","MitochondrialMyopathyResearch@chop.edu",{"name":26,"role":22,"phone":23,"phoneExt":10,"email":24},"Jean Flickinger, PT",[28],{"facility":5,"status":29,"city":30,"state":31,"zip":32,"country":33,"countryCode":34,"cosmosGeoPoint":35,"geoPoint":40,"contacts":41},"RECRUITING","Philadelphia","Pennsylvania","19104","United States","US",{"type":36,"coordinates":37},"Point",[38,39],-75.16362,39.95238,{"lat":39,"lon":38},[42],{"name":43,"role":22,"phone":44,"phoneExt":10,"email":24},"Amanda Wellik","267-426-4961",{"type":46,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR",[48,50,53,56],{"name":49,"class":6},"University of Pennsylvania",{"name":51,"class":52},"United Mitochondrial Disease Foundation (UMDF)","UNKNOWN",{"name":54,"class":55},"National Institutes of Health (NIH)","NIH",{"name":57,"class":55},"National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)","100458496","natural-history-study-of-mitochondrial-myopathy-100458496",false,"NCT05250375","Natural History Study of Mitochondrial Myopathy","MM Cohort Inclusion Criteria\n\n1. Males or females age 0-100 years of age\n2. Mitochondrial disorder established by confirmed genetic or biochemical mutation in mtDNA or nuclear DNA OR is suitable for participation in the opinion of the investigator based on clinical presentation.\n3. Exhibits myopathy (exercise intolerance, muscle strength, fatigue) relating to Mitochondrial disease in the opinion of the investigator\n4. Able to provide written consent OR parental permission and child assent OR if they are an adult with diminished capacity, an LAR or healthcare representative is able to and willing to provide consent ., as approved by the appropriate Institutional Review Board (IRB) or Ethics Committee (EC)\n\nMM Cohort Exclusion Criteria\n\n1. Male or female fetuses\n2. Non English speakers\n3. Parents\u002Fguardians or subjects who, in the opinion of the Investigator, may be non-compliant with study schedules or procedures.\n4. Subjects that do not meet all of the enrollment criteria may not be enrolled. Any violations of these criteria must be reported in accordance with IRB Policies and Procedures.\n\nHealthy Control Cohort Inclusion Criteria\n\n1. Males or females age 0-100 years of age\n2. No history of mitochondrial myopathy symptoms\n3. Able to provide written consent or parental permission and child assent., approved by the appropriate Institutional Review Board (IRB) or Ethics Committee (EC)\n4. Individual is not a study staff member or a family member of a study staff member (not listed as a study staff in eIRB)\n\nHealthy Control Exclusion Criteria\n\n1. Male or female fetuses\n2. Non English speakers\n3. Mitochondrial disorder established by confirmed genetic or biochemical mutation in mtDNA or nuclear DNA\n4. Exhibits myopathy (exercise intolerance, muscle strength, fatigue) relating to Mitochondrial disease\n5. Parents\u002Fguardians or subjects who, in the opinion of the Investigator, may be non-compliant with study schedules or procedures.\n6. Individual is listed as a study staff member in eIRB, OR individual is a family member of a study staff member listed in eIRB\n7. Subjects that do not meet all of the enrollment criteria may not be enrolled. Any violations of these criteria must be reported in accordance with IRB Policies and Procedures.",true,"ALL","0 Years","100 Years",{"count":69,"type":70},1300,"ESTIMATED","20 Years","OBSERVATIONAL","The goal of this observational study is to develop and validate tools to measure disease course in patients with primary mitochondrial myopathy (PMM). The main aims of this study are:\n\n* Development, validation, and optimization of objective outcome measures for mitochondrial myopathy\n* Defining the natural history of mitochondrial myopathy\n\nResearchers will compare data from patients with primary mitochondrial myopathy to healthy controls. Data from healthy controls will also help define normative data for future studies.\n\nParticipants will perform clinical exams of muscle strength and endurance and will complete surveys.",[75],"Primary Mitochondrial Disease",[77,78,79,80,81,82,83],"Mitochondrial Myopathy","Mitochondrial Disease","Healthy Volunteers","Natural History","Muscle Weakness","Fatigue","Outcome Measures","2025-09-03",{"date":86,"type":87},"2025-09-10","ACTUAL",{"date":89,"type":87},"2017-03-24",{"date":91,"type":70},"2030-03-24",{"name":5,"class":6},1]