[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100552397":3},{"organization":4,"armGroups":7,"interventions":10,"overallOfficials":18,"centralContacts":25,"locations":34,"responsibleParty":139,"collaborators":10,"id":142,"slug":143,"hasResults":144,"nctId":145,"briefTitle":146,"officialTitle":146,"acronym":10,"eligibilityCriteria":147,"healthyVolunteers":148,"sex":149,"minAge":150,"maxAge":151,"enrollmentInfo":152,"targetDuration":155,"studyType":156,"phases":10,"briefSummary":157,"conditions":158,"keywords":160,"overallStatus":37,"whyStopped":10,"lastUpdateSubmitDate":165,"lastUpdatePostDateStruct":166,"startDateStruct":169,"completionDateStruct":171,"leadSponsor":173,"locationsCount":174},{"fullName":5,"class":6},"University Hospital Tuebingen","OTHER",[8,12,15],{"label":9,"type":10,"description":11,"interventionNames":10},"SCA27B",null,"Participants with genetically confirmed SCA27B (OMIM 620174), i.e. ≥250 uninterrupted GAA repeat expansions in FGF14, will be recruited. Target sample size for the SCA27B cohort is 200 participants.",{"label":13,"type":10,"description":14,"interventionNames":10},"SCA27B risk subjects","First-degree relatives at risk for SCA27B, both with known and unknown carrier status, will be included to capture presymptomatic disease stages. Target sample size for the risk cohort is 50 participants",{"label":16,"type":10,"description":17,"interventionNames":10},"Unrelated healthy controls","Unrelated healthy controls may undergo the same study procedures as the SCA27B cohort to determine age-related effects on the multimodal outcomes. Target sample size for the control cohort is 50.",[19,23],{"name":20,"affiliation":21,"role":22},"Matthis Synofzik, Prof. Dr.","University Hospital Tübingen","PRINCIPAL_INVESTIGATOR",{"name":24,"affiliation":21,"role":22},"Andreas Traschütz, Dr. Dr.",[26,31],{"name":20,"role":27,"phone":28,"phoneExt":29,"email":30},"CONTACT","+49 7071 29","82060","matthis.synofzik@uni-tuebingen.de",{"name":24,"role":27,"phone":28,"phoneExt":32,"email":33},"61890","andreas.traschuetz@uni-tuebingen.de",[35,57,76,94,115],{"facility":36,"status":37,"city":38,"state":10,"zip":39,"country":40,"countryCode":10,"cosmosGeoPoint":41,"geoPoint":46,"contacts":47},"Department of Neurology, Motol University Hospital, Second Faculty of Medicine, Charles University","RECRUITING","Prague","15006","Czechia",{"type":42,"coordinates":43},"Point",[44,45],14.42076,50.08804,{"lat":45,"lon":44},[48,52,54],{"name":49,"role":27,"phone":50,"phoneExt":10,"email":51},"Olga Brýksiová","+420 702 269 277","ataxie@fnmotol.cz",{"name":53,"role":22,"phone":10,"phoneExt":10,"email":10},"Martin Vyhnálek, Assoc. Prof., MD., Ph.D.",{"name":55,"role":56,"phone":10,"phoneExt":10,"email":10},"Zuzana Blichová, MD","SUB_INVESTIGATOR",{"facility":58,"status":37,"city":59,"state":60,"zip":61,"country":62,"countryCode":63,"cosmosGeoPoint":64,"geoPoint":68,"contacts":69},"Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases","Tübingen","Baden-Wurttemberg","72076","Germany","DE",{"type":42,"coordinates":65},[66,67],9.05222,48.52266,{"lat":67,"lon":66},[70,74,75],{"name":71,"role":27,"phone":28,"phoneExt":72,"email":73},"Lisa Graf, MSc","85374","lisa.graf@med.uni-tuebingen.de",{"name":20,"role":22,"phone":10,"phoneExt":10,"email":10},{"name":24,"role":22,"phone":10,"phoneExt":10,"email":10},{"facility":77,"status":37,"city":78,"state":79,"zip":80,"country":62,"countryCode":63,"cosmosGeoPoint":81,"geoPoint":85,"contacts":86},"Department of Neurology & Center for Translational Neuro- and Behavioral Sciences, Essen University Hospital, University of Duisburg-Essen","Essen","North Rhine-Westphalia","45147",{"type":42,"coordinates":82},[83,84],7.01228,51.45657,{"lat":84,"lon":83},[87,92],{"name":88,"role":27,"phone":89,"phoneExt":90,"email":91},"Friedrich Erdlenbruch, Dr.","+49 201 723","2180","friedrich.erdlenbruch@uk-essen.de",{"name":93,"role":22,"phone":10,"phoneExt":10,"email":10},"Dagmar Timmann, Prof. Dr.",{"facility":95,"status":37,"city":96,"state":10,"zip":97,"country":98,"countryCode":99,"cosmosGeoPoint":100,"geoPoint":104,"contacts":105},"IRCCS Fondazione Stella Maris","Pisa","56128","Italy","IT",{"type":42,"coordinates":101},[102,103],10.4036,43.70853,{"lat":103,"lon":102},[106,110,113,114],{"name":107,"role":27,"phone":108,"phoneExt":10,"email":109},"Filippo M. Santorelli, MD","+39 050 886275","filippo.santorelli@fsm.unipi.it",{"name":111,"role":27,"phone":10,"phoneExt":10,"email":112},"Sara Satolli, MD","sara.satolli@gmail.com",{"name":107,"role":22,"phone":10,"phoneExt":10,"email":10},{"name":111,"role":56,"phone":10,"phoneExt":10,"email":10},{"facility":116,"status":37,"city":117,"state":118,"zip":119,"country":120,"countryCode":121,"cosmosGeoPoint":122,"geoPoint":126,"contacts":127},"Department of Neurology, Donostia University Hospital, BioGipuzkoa Health Research Institute","San Sebastián","Gipuzkoa","20014","Spain","ES",{"type":42,"coordinates":123},[124,125],-5.9,43.56667,{"lat":125,"lon":124},[128,133,135,137],{"name":129,"role":27,"phone":130,"phoneExt":131,"email":132},"Ioana Croitoru, SC","+34 94300","7027","ioana.croitoru@bio-gipuzkoa.eus",{"name":134,"role":22,"phone":10,"phoneExt":10,"email":10},"Javier Ruiz Martinez, Prof. Dr.",{"name":136,"role":56,"phone":10,"phoneExt":10,"email":10},"Ana Vinagre Aragon, Dr.",{"name":138,"role":56,"phone":10,"phoneExt":10,"email":10},"Elisabet Mondragon Rezola, Dr.",{"type":22,"investigatorFullName":140,"investigatorTitle":141,"investigatorAffiliation":5,"oldNameTitle":10,"oldOrganization":10},"Prof. Dr. Matthis Synofzik","Principal Investigator, Leading Consultant","100552397","spinocerebellar-ataxia-type-27b-natural-history-study-sca27b-nhs-100552397",false,"NCT06472557","Spinocerebellar Ataxia Type 27B Natural History Study (SCA27B-NHS)","Inclusion Criteria:\n\n* SCA27B: genetic diagnosis of ≥250 uninterrupted GAA repeat expansions in FGF14\n* SCA27B risk subject: asymptomatic first-degree relative of SCA27B participant with known or unknown carrier status\n* Unrelated healthy controls: no signs or history of neurological or psychiatric disease AND\n* Written informed consent AND\n* Participants are willing and able to comply with study procedures\n\nExclusion Criteria:\n\n* SCA27B: Missing informed consent\n* SCA27B risk subjects: Missing informed consent\n* Unrelated healthy controls: Missing informed consent, or concurrent neurological, orthopedic, or other diseases interfering with the motor assessments",true,"ALL","18 Years","99 Years",{"count":153,"type":154},300,"ESTIMATED","24 Months","OBSERVATIONAL","This international, multi-center, multi-modal, and prospective observational cohort study aims to validate trial outcomes for capturing disease progression in Spinocerebellar Ataxia Type 27B (SCA27B), with combined multi-modal capture of clinical outcome assessments, digital-motor assessments, and molecular biomarkers.",[159],"Spinocerebellar Ataxia Type 27B",[161,9,162,163,164],"ataxia","FGF14","Natural History Study","Outcome Validation","2026-03-30",{"date":167,"type":168},"2026-04-06","ACTUAL",{"date":170,"type":168},"2024-06-04",{"date":172,"type":154},"2028-12-31",{"name":5,"class":6},5]