[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT01532791":3,"trial-entities:NCT01532791":108,"trial-summary:NCT01532791":114},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":7,"overall_status":8,"completion_date":9,"status_verified_date":10,"last_update_date":11,"start_date":12,"sponsor_name":13,"lead_sponsor_class":14,"has_dmc":15,"brief_summary":16,"detailed_description":17,"conditions":18,"keywords":20,"study_type":27,"primary_purpose":28,"phases":29,"enrollment_info":30,"interventions":33,"primary_outcomes":34,"secondary_outcomes":39,"sex":55,"minimum_age":56,"maximum_age":28,"healthy_volunteers":57,"eligibility_criteria":58,"std_ages":64,"locations":68,"central_contacts":82,"overall_officials":85,"references":90,"see_also_links":104},"NCT01532791","AAAB1425","Natural History Study - Mitochondrial Disease","Mitochondrial Encephalomyopathies and Mental Retardation: Investigations of Clinical Syndromes Associated With MtDNA Point Mutations","RECRUITING","2026-07","2026-01","2026-01-23","2004-07","Columbia University","OTHER",false,"Carriers of the m.3242A\\>G mutation often have clinical symptoms which can include migraines, seizures, strokes, hearing loss, balance issues, gastrointestinal issues, and many other symptoms. The investigators would like to learn more about these disorders and have designed a \"Natural History Study\" to monitor these conditions over time so that physicians and scientists can not only understand the problems that patients have, but work on developing treatments. The focus of the current work is to evaluate known mutation carriers of the m.3243A\\>G (mitochondrial DNA) and their maternal relatives (carrier status not a requirement for participation). Paternal relatives will serve as controls. This study involves no treatment.","The purpose of this study is to investigate the neurological and biochemical consequences of the m.3243 A\\>G mutation. Mitochondria are the powerhouses of the cell and are controlled by nuclear genetic material (DNA) and mitochondrial (mt) DNA. Mitochondrial DNA mutations impair mitochondrial function, and cause cellular energy failure. These mutations, when present in high abundance, cause neurological signs and symptoms that are clinically obvious. The investigators hypothesize that these mutations, when present in lesser abundance, will cause measurable alterations in the patient's neuropsychological profile and cerebral energy profile. This study does not involve any experimental or approved therapy. The investigators will evaluate the patient's condition with blood\u002Furine tests, neurological exam, MRI\u002FMRS, questionnaires, motor skills functioning, serum and urine biomarkers, and genetic testing.",[19],"MELAS or m.3243 A>G Mitochondrial DNA Mutation Carrier",[21,22,23,24,25,26],"MELAS","mitochondrial DNA mutation","mtDNA mutation","mitochondrial DNA","mitochondria","m.3243A>G mutation","OBSERVATIONAL",null,[],{"count":31,"type":32},300,"ESTIMATED",[],[35],{"measure":36,"description":37,"timeFrame":38},"MRI\u002FMRS","Evaluate structure and function in brain and muscle","2-3 years",[40,43,46,49,52],{"measure":41,"description":42,"timeFrame":38},"Biomarkers","Evaluate various biomarkers of disease progression",{"measure":44,"description":45,"timeFrame":38},"Motor skills","6 minute walk test to evaluate motor skills",{"measure":47,"description":48,"timeFrame":38},"Cognitive function","Evaluate cognitive function through neuropsychological testing",{"measure":50,"description":51,"timeFrame":38},"Clinical symptoms","Evaluate clinical symptoms through medical history questionnaires and physical exam",{"measure":53,"description":54,"timeFrame":38},"Mutation load","Evaluate heteroplasmy through blood,urine and skin fibroblast evaluations","ALL","4 Years",true,{"inclusion":59,"exclusion":60,"raw_text":63},[],[61,62],"Younger than 4 years of age","No confirmed m.3243 A\\>G mitochondrial DNA mutation in the family.","Inclusion Criteria:\n\nKnown carrier of a the m.3243 A\\>G mitochondrial mutation, ,or Maternally related to someone who carries the m.3243A\\>G mitochondrial mutation.\n\nA family member who is not maternally related to someone who carries the m.3243A\\>G mitochondrial mutation\n\nExclusion Criteria:\n\n* Younger than 4 years of age\n* No confirmed m.3243 A\\>G mitochondrial DNA mutation in the family.",[65,66,67],"CHILD","ADULT","OLDER_ADULT",[69],{"facility":13,"status":8,"city":70,"state":70,"zip":71,"country":72,"contacts":73,"geoPoint":79},"New York","10032","United States",[74],{"name":75,"role":76,"phone":77,"email":78},"Kris Engelstad, MS","CONTACT","'-212-305-6834","ke4@cumc.columbia.edu",{"lat":80,"lon":81},40.71427,-74.00597,[83],{"name":75,"role":76,"phone":84,"email":78},"2123056834",[86],{"name":87,"affiliation":88,"role":89},"Michio Hirano, MD","mh29@cumc.columbia.edu","PRINCIPAL_INVESTIGATOR",[91,95,98,101],{"pmid":92,"type":93,"citation":94},"24477106","BACKGROUND","Weiduschat N, Kaufmann P, Mao X, Engelstad KM, Hinton V, DiMauro S, De Vivo D, Shungu D. Cerebral metabolic abnormalities in A3243G mitochondrial DNA mutation carriers. Neurology. 2014 Mar 4;82(9):798-805. doi: 10.1212\u002FWNL.0000000000000169. Epub 2014 Jan 29.",{"pmid":96,"type":93,"citation":97},"22094475","Kaufmann P, Engelstad K, Wei Y, Kulikova R, Oskoui M, Sproule DM, Battista V, Koenigsberger DY, Pascual JM, Shanske S, Sano M, Mao X, Hirano M, Shungu DC, Dimauro S, De Vivo DC. Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype. Neurology. 2011 Nov 29;77(22):1965-71. doi: 10.1212\u002FWNL.0b013e31823a0c7f. Epub 2011 Nov 16.",{"pmid":99,"type":93,"citation":100},"19253345","Mehrazin M, Shanske S, Kaufmann P, Wei Y, Coku J, Engelstad K, Naini A, De Vivo DC, DiMauro S. Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS. Am J Med Genet A. 2009 Feb 15;149A(4):584-7. doi: 10.1002\u002Fajmg.a.32703.",{"pmid":102,"type":93,"citation":103},"19139304","Kaufmann P, Engelstad K, Wei Y, Kulikova R, Oskoui M, Battista V, Koenigsberger DY, Pascual JM, Sano M, Hirano M, DiMauro S, Shungu DC, Mao X, De Vivo DC. Protean phenotypic features of the A3243G mitochondrial DNA mutation. Arch Neurol. 2009 Jan;66(1):85-91. doi: 10.1001\u002Farchneurol.2008.526.",[105],{"label":106,"url":107},"general website for our available clinical studies","http:\u002F\u002Fwww.giblinlab.org",{"nct_id":4,"conditions":109,"biomarkers":112},[110,111],"MELAS Syndrome","Mitochondrial disease",[113],"TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1",{"nct_id":4,"found":57,"summary":115,"prompt_version":125},{"design":116,"status":117,"heading":118,"summary":119,"follow_up":120,"word_count":121,"commitments":122,"compensation":123,"drugs_mentioned":124},"This is an observational study, meaning no treatment is given. It aims to enroll 300 participants.","completed","Natural History Study for m.3243 A>G Mitochondrial Disease","This study aims to better understand the m.3243 A>G mitochondrial DNA mutation, which can cause symptoms like migraines, seizures, and hearing loss. It's a \"Natural History Study,\" meaning researchers will observe how the condition changes over time without giving any new treatments. The goal is to learn more about the problems patients face and help develop future treatments. You might be able to join if you or a maternal relative carry the m.3243 A>G mutation. Paternal relatives will also be included as a comparison group. The study will look at how this mutation affects your brain and body, even if the symptoms are mild. Success for this study means gaining a clearer picture of how the mutation impacts people over 2-3 years, as measured by brain scans (MRI\u002FMRS). The study is currently unclear on its recruitment status and plans to enroll 300 participants.","Participants will be followed for 2-3 years, with MRI\u002FMRS measurements taken at these time points.",143,"The study will involve blood\u002Furine tests, a neurological exam, MRI\u002FMRS scans, questionnaires, motor skills tests, and genetic testing.","Not stated in the trial record.",[],"v2"]