[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100137498":3},{"organization":4,"armGroups":7,"interventions":26,"overallOfficials":48,"centralContacts":59,"locations":65,"responsibleParty":348,"collaborators":352,"id":377,"slug":378,"hasResults":379,"nctId":380,"briefTitle":381,"officialTitle":382,"acronym":10,"eligibilityCriteria":383,"healthyVolunteers":384,"sex":385,"minAge":386,"maxAge":10,"enrollmentInfo":387,"targetDuration":10,"studyType":390,"phases":10,"briefSummary":391,"conditions":392,"keywords":403,"overallStatus":68,"whyStopped":10,"lastUpdateSubmitDate":408,"lastUpdatePostDateStruct":409,"startDateStruct":412,"completionDateStruct":414,"leadSponsor":416,"locationsCount":417},{"fullName":5,"class":6},"National Ataxia Foundation","OTHER",[8,17,22],{"label":9,"type":10,"description":11,"interventionNames":12},"Participants with Spinocerebellar Ataxias (Main Study)",null,"Individuals aged 6 or older with the spinocerebellar ataxias 1, 2, 3, 6, 7, 8, 10, 27b, or RFC1-Ataxia will be enrolled for genetic testing, blood collection, assessments, and questionnaires.",[13,14,15,16],"Genetic: Genetic Testing","Other: Blood Collection","Other: Assessments and Questionnaires","Other: Cerebrospinal Fluid Collection",{"label":18,"type":10,"description":19,"interventionNames":20},"Participants with Spinocerebellar Ataxias (MRI Sub-study)","Adults with the spinocerebellar ataxias 1, 2, and 3 will be enrolled for genetic testing, blood collection, assessments, questionnaires, and magnetic resonance imaging (MRI).",[13,14,21,15],"Other: Magnetic Resonance Imaging (MRI) Scan",{"label":23,"type":10,"description":24,"interventionNames":25},"Healthy Controls (MRI Sub-study)","Adults without spinocerebellar ataxias or other neurological conditions will be enrolled for genetic testing, blood collection, assessments, questionnaires, and magnetic resonance imaging (MRI).",[13,14,21,15],[27,32,36,40,44],{"type":28,"name":29,"description":30,"armGroupLabels":31,"otherNames":10},"GENETIC","Genetic Testing","About two teaspoons (10 milliliters) of blood will be collected during the first\u002Fscreening visit to determine SCA type.",[23,18,9],{"type":6,"name":33,"description":34,"armGroupLabels":35,"otherNames":10},"Blood Collection","Up to 50 milliliters of total blood (whole blood, plasma, serum) may be collected at each visit to measure markers of neurological disease.",[23,18,9],{"type":6,"name":37,"description":38,"armGroupLabels":39,"otherNames":10},"Magnetic Resonance Imaging (MRI) Scan","Participants in the sub-study will undergo an MRI scan of head and spine lasting up to 90 minutes at 3 Tesla strength.",[23,18],{"type":6,"name":41,"description":42,"armGroupLabels":43,"otherNames":10},"Assessments and Questionnaires","Participants will complete various motor function and cognitive assessments and self-report questionnaires.",[23,18,9],{"type":6,"name":45,"description":46,"armGroupLabels":47,"otherNames":10},"Cerebrospinal Fluid Collection","(Optional) About 1 1\u002F2 tablespoon (25ml) of CSF collected in adults.",[9],[49,53,56],{"name":50,"affiliation":51,"role":52},"Liana Rosenthal, MD, PhD","Johns Hopkins University","PRINCIPAL_INVESTIGATOR",{"name":54,"affiliation":55,"role":52},"Sheng-Han Kuo, MD","Columbia University",{"name":57,"affiliation":58,"role":52},"Vikram Shakkottai, MD, PhD","University of Texas",[60],{"name":61,"role":62,"phone":63,"phoneExt":10,"email":64},"Laura P Crespo","CONTACT","763-553-0085","laura@ataxia.org",[66,87,106,125,141,158,175,182,200,217,238,249,264,281,297,313,329],{"facility":67,"status":68,"city":69,"state":70,"zip":71,"country":72,"countryCode":73,"cosmosGeoPoint":74,"geoPoint":79,"contacts":80},"University of California Los Angeles","RECRUITING","Los Angeles","California","90095","United States","US",{"type":75,"coordinates":76},"Point",[77,78],-118.24368,34.05223,{"lat":78,"lon":77},[81,85],{"name":82,"role":62,"phone":83,"phoneExt":10,"email":84},"Westley Ulit","310-206-8153","wulit@mednet.ucla.edu",{"name":86,"role":52,"phone":10,"phoneExt":10,"email":10},"Susan Perlman, M.D.",{"facility":88,"status":68,"city":89,"state":70,"zip":90,"country":72,"countryCode":73,"cosmosGeoPoint":91,"geoPoint":95,"contacts":96},"University of California San Francisco","San Francisco","94115",{"type":75,"coordinates":92},[93,94],-122.41942,37.77493,{"lat":94,"lon":93},[97,101,103],{"name":98,"role":62,"phone":99,"phoneExt":10,"email":100},"Zach Lamson","415-502-0670","zach.lamson@ucsf.edu",{"name":102,"role":52,"phone":10,"phoneExt":10,"email":10},"Michael Geschwind, MD",{"name":104,"role":105,"phone":10,"phoneExt":10,"email":10},"Cameron Dietiker, MD","SUB_INVESTIGATOR",{"facility":107,"status":68,"city":108,"state":109,"zip":110,"country":72,"countryCode":73,"cosmosGeoPoint":111,"geoPoint":115,"contacts":116},"University of Florida","Gainesville","Florida","32610",{"type":75,"coordinates":112},[113,114],-82.32483,29.65163,{"lat":114,"lon":113},[117,121,123],{"name":118,"role":62,"phone":119,"phoneExt":10,"email":120},"Amanda Fessenden","352-733-2431","amanda.fessenden@neurology.ufl.edu",{"name":122,"role":52,"phone":10,"phoneExt":10,"email":10},"S H Subramony, MD",{"name":124,"role":52,"phone":10,"phoneExt":10,"email":10},"Matthew Burns, MD, PhD",{"facility":126,"status":68,"city":127,"state":109,"zip":128,"country":72,"countryCode":73,"cosmosGeoPoint":129,"geoPoint":133,"contacts":134},"University of South Florida","Tampa","33620",{"type":75,"coordinates":130},[131,132],-82.45843,27.94752,{"lat":132,"lon":131},[135,139],{"name":136,"role":62,"phone":137,"phoneExt":10,"email":138},"Lucretia Campbell","813-974-5633","lcampbel@usf.edu",{"name":140,"role":52,"phone":10,"phoneExt":10,"email":10},"Theresa Zesiewicz, M.D.",{"facility":142,"status":68,"city":143,"state":144,"zip":145,"country":72,"countryCode":73,"cosmosGeoPoint":146,"geoPoint":150,"contacts":151},"Emory University","Atlanta","Georgia","30320",{"type":75,"coordinates":147},[148,149],-84.38798,33.749,{"lat":149,"lon":148},[152,156],{"name":153,"role":62,"phone":154,"phoneExt":10,"email":155},"Lorena Bingham","404-728-4909","lorena.antonieta.bingham@emory.edu",{"name":157,"role":52,"phone":10,"phoneExt":10,"email":10},"George Wilmot, MD, PhD",{"facility":159,"status":68,"city":160,"state":161,"zip":162,"country":72,"countryCode":73,"cosmosGeoPoint":163,"geoPoint":167,"contacts":168},"Nortwestern University","Chicago","Illinois","60611",{"type":75,"coordinates":164},[165,166],-87.65005,41.85003,{"lat":166,"lon":165},[169,173],{"name":170,"role":62,"phone":171,"phoneExt":10,"email":172},"Karen Williams","312-503-5645","k-williams8@northwestern.edu",{"name":174,"role":52,"phone":10,"phoneExt":10,"email":10},"Puneet Opal, MD",{"facility":176,"status":177,"city":160,"state":161,"zip":178,"country":72,"countryCode":73,"cosmosGeoPoint":179,"geoPoint":181,"contacts":10},"University of Chicago","WITHDRAWN","60637",{"type":75,"coordinates":180},[165,166],{"lat":166,"lon":165},{"facility":183,"status":68,"city":184,"state":185,"zip":186,"country":72,"countryCode":73,"cosmosGeoPoint":187,"geoPoint":191,"contacts":192},"John Hopkins University","Baltimore","Maryland","21287",{"type":75,"coordinates":188},[189,190],-76.61219,39.29038,{"lat":190,"lon":189},[193,197,199],{"name":194,"role":62,"phone":195,"phoneExt":10,"email":196},"Vanessa Nesspor","410-616-2815","ataxiaresearch@jhu.edu",{"name":198,"role":52,"phone":10,"phoneExt":10,"email":10},"Chiadi Onyike, MD, MHS",{"name":50,"role":52,"phone":10,"phoneExt":10,"email":10},{"facility":201,"status":68,"city":202,"state":203,"zip":204,"country":72,"countryCode":73,"cosmosGeoPoint":205,"geoPoint":209,"contacts":210},"Harvard University","Boston","Massachusetts","02114",{"type":75,"coordinates":206},[207,208],-71.05977,42.35843,{"lat":208,"lon":207},[211,215],{"name":212,"role":62,"phone":213,"phoneExt":10,"email":214},"Jason MacMore","617-726-3216","jmacmore@partners.org",{"name":216,"role":52,"phone":10,"phoneExt":10,"email":10},"Jeremy Schmahmann, M.D.",{"facility":218,"status":68,"city":219,"state":220,"zip":221,"country":72,"countryCode":73,"cosmosGeoPoint":222,"geoPoint":226,"contacts":227},"University of Michigan","Ann Arbor","Michigan","48109",{"type":75,"coordinates":223},[224,225],-83.74088,42.27756,{"lat":225,"lon":224},[228,232,234,236],{"name":229,"role":62,"phone":230,"phoneExt":10,"email":231},"Frank Ferrari","734-232-6247","frankfer@med.umich.edu",{"name":233,"role":52,"phone":10,"phoneExt":10,"email":10},"Henry Paulson, M.D., PhD.",{"name":235,"role":52,"phone":10,"phoneExt":10,"email":10},"Sharan Srinivasan, M.D.",{"name":237,"role":105,"phone":10,"phoneExt":10,"email":10},"Peter Todd, MD, PhD",{"facility":239,"status":240,"city":241,"state":242,"zip":243,"country":72,"countryCode":73,"cosmosGeoPoint":244,"geoPoint":248,"contacts":10},"University of Minnesota","ACTIVE_NOT_RECRUITING","Minneapolis","Minnesota","55455",{"type":75,"coordinates":245},[246,247],-93.26384,44.97997,{"lat":247,"lon":246},{"facility":55,"status":68,"city":250,"state":250,"zip":251,"country":72,"countryCode":73,"cosmosGeoPoint":252,"geoPoint":256,"contacts":257},"New York","10032",{"type":75,"coordinates":253},[254,255],-74.00597,40.71427,{"lat":255,"lon":254},[258,262],{"name":259,"role":62,"phone":260,"phoneExt":10,"email":261},"Nadia Amokrane","212-305-5558","na2855@cumc.columbia.edu",{"name":263,"role":52,"phone":10,"phoneExt":10,"email":10},"Sheng-Han Kuo, M.D.",{"facility":265,"status":68,"city":266,"state":267,"zip":268,"country":72,"countryCode":73,"cosmosGeoPoint":269,"geoPoint":273,"contacts":274},"University of Pennsylvania","Philadelphia","Pennsylvania","19107",{"type":75,"coordinates":270},[271,272],-75.16362,39.95238,{"lat":272,"lon":271},[275,279],{"name":276,"role":62,"phone":277,"phoneExt":10,"email":278},"Anne Beckett-Fedarko","215-829-7775","anne.beckett-fedarko@pennmedicine.upenn.edu",{"name":280,"role":52,"phone":10,"phoneExt":10,"email":10},"Ali Hamedani, MD",{"facility":282,"status":68,"city":283,"state":284,"zip":285,"country":72,"countryCode":73,"cosmosGeoPoint":286,"geoPoint":290,"contacts":291},"University of Texas Southwestern Medical Center","Dallas","Texas","75390",{"type":75,"coordinates":287},[288,289],-96.80667,32.78306,{"lat":289,"lon":288},[292,296],{"name":293,"role":62,"phone":294,"phoneExt":10,"email":295},"Sharon Primeaux","214-645-0671","Sharon.Primeaux@UTSouthwestern.edu",{"name":57,"role":52,"phone":10,"phoneExt":10,"email":10},{"facility":298,"status":68,"city":299,"state":284,"zip":300,"country":72,"countryCode":73,"cosmosGeoPoint":301,"geoPoint":305,"contacts":306},"Houston Methodist","Houston","77030",{"type":75,"coordinates":302},[303,304],-95.36327,29.76328,{"lat":304,"lon":303},[307,311],{"name":308,"role":62,"phone":309,"phoneExt":10,"email":310},"Noor Albukhaleefah","346-356-3638","nalbukhaleefah@houstonmethodist.org",{"name":312,"role":52,"phone":10,"phoneExt":10,"email":10},"Andrew Billnitzer, MD",{"facility":314,"status":68,"city":315,"state":316,"zip":317,"country":72,"countryCode":73,"cosmosGeoPoint":318,"geoPoint":322,"contacts":323},"University of Washington","Seattle","Washington","98195",{"type":75,"coordinates":319},[320,321],-122.33207,47.60621,{"lat":321,"lon":320},[324,327],{"name":325,"role":62,"phone":10,"phoneExt":10,"email":326},"Sarah Simon","ssimon3@uw.edu",{"name":328,"role":52,"phone":10,"phoneExt":10,"email":10},"Marie Davis, MD",{"facility":330,"status":68,"city":331,"state":332,"zip":333,"country":334,"countryCode":335,"cosmosGeoPoint":336,"geoPoint":340,"contacts":341},"Le Centre hospitalier de l'Université de Montréal","Montreal","Quebec","30153","Canada","CA",{"type":75,"coordinates":337},[338,339],-73.58781,45.50884,{"lat":339,"lon":338},[342,346],{"name":343,"role":62,"phone":344,"phoneExt":10,"email":345},"Martine Comeau","514-890-8000","martine.comeau.chum@ssss.gouv.qc.ca",{"name":347,"role":52,"phone":10,"phoneExt":10,"email":10},"Antoine Duquette, MD",{"type":349,"investigatorFullName":350,"investigatorTitle":351,"investigatorAffiliation":5,"oldNameTitle":10,"oldOrganization":10},"SPONSOR_INVESTIGATOR","Lauren Moore","Chief Scientific Officer",[353,355,356,357,358,359,360,362,364,365,366,367,369,370,371,373,375,376],{"name":354,"class":6},"University of California, Los Angeles",{"name":126,"class":6},{"name":5,"class":6},{"name":55,"class":6},{"name":51,"class":6},{"name":282,"class":6},{"name":361,"class":6},"The Methodist Hospital Research Institute",{"name":363,"class":6},"University of California, San Francisco",{"name":107,"class":6},{"name":142,"class":6},{"name":176,"class":6},{"name":368,"class":6},"Northwestern University",{"name":218,"class":6},{"name":239,"class":6},{"name":372,"class":6},"Massachusetts General Hospital",{"name":374,"class":6},"Centre hospitalier de l'Université de Montréal (CHUM)",{"name":265,"class":6},{"name":314,"class":6},"100137498","natural-history-study-of-and-genetic-modifiers-in-spinocerebellar-ataxias-100137498",false,"NCT01060371","Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias","Clinical Research Consortium for the Study of Cerebellar Ataxias (CRC-SCA) for the Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias (SCA)","Inclusion Criteria:\n\n* Affected individuals aged 6 or above with symptoms and\u002For signs of ataxia with genetic confirmation of SCA 1, 2, 3, 6, 7, 8, 10, 27B, or RFC1-ataxia either in themselves or first degree family member.\n* Any individual aged 18 or above with a definite molecular diagnosis of SCA 1, 2, 3, 6, 7, 8, 10, 27B, or RFC1-ataxia.\n* Former participants of the READISCA (NCT03487367) study.\n* Willingness to participate in the study and ability to give informed consent\n* For MRI Sub-Study only: Previous READISCA enrollees; individuals aged 18 or above with a genetic confirmation of SCA1, 2, or 3 and a SARA score \\\u003C10 at MRI pre-screening; Healthy control participants without neurological condition.\n\nExclusion Criteria:\n\n* Exclusion of SCA 1, 2, 3, 6, 7, 8, 10, 27B, or RFC1-ataxia by previous DNA testing.\n* A lack of willingness to participate in the study\n* For MRI Sub-study only: Inability to undergo MRI scanning, pregnancy, and other neurological diseases than those of interest.",true,"ALL","6 Years",{"count":388,"type":389},1400,"ESTIMATED","OBSERVATIONAL","Spinocerebellar ataxias (SCA) are genetic neurological diseases that cause imbalance, poor coordination, and speech difficulties. There are different kinds of SCAs and this study will focus on types 1, 2, 3, 6, 7, 8, 10, 27B, and RFC1-ataxia (SCA 1, SCA 2, SCA 3, also known as Machado-Joseph disease, SCA 6, SCA 7, SCA 8, SCA 10, SCA27B, and RFC1-ataxia, also known as CANVAS). The diseases are rare, slowly progressive, cause increasingly severe neurological difficulties, and are variable across and within genotypes. The purpose of this research study is to bring together a group of experts in the field of SCA for the purpose of learning more about the disease.\n\nThe research questions are:\n\n1. How do these diseases progress over time?\n2. What are the best ways to measure the progression?\n3. Do some genes, other than the gene that is abnormal in these diseases, have any effect on the way the disease behaves?\n\nThis is a nationwide study and the investigators expect that 1400 patients will participate all over North America. The participants will remain in the study for an indeterminate period of time, for as long as they are willing to participate. Study visits will be done every 12 months.\n\nWithin the broader CRC-SCA, there is an Imaging Sub-study aiming to identify magnetic resonance imaging (MRI) markers sensitive to the onset and progression of common SCAs. To accomplish this, participants attend annual visits involving a neurological exam, surveys, a blood draw, and an MRI scan. Participants can attend visits at one of three US locations - Minneapolis, MN; Gainesville, FL; or Dallas, TX and two European locations - Paris, France and Bonn, Germany. Eligible participants must either have SCA1, 2, or 3 or have been a participant of the previous READISCA study (NCT03487367). Gene-positive participants must have a SARA score less than 10; however, there is no SARA limit for participants previously enrolled in READISCA. All participants must be 18 years or older. Gene-negative participants should be 25-65 years old.",[393,394,395,396,397,398,399,400,401,402],"Spinocerebellar Ataxia Type 1","Spinocerebellar Ataxia Type 2","Spinocerebellar Ataxia Type 3","Spinocerebellar Ataxia Type 6","Spinocerebellar Ataxia Type 7","Spinocerebellar Ataxia Type 8","Spinocerebellar Ataxia Type 10","RFC1 Gene Mutation","Spinocerebellar Ataxia Type 27b","Healthy Participants",[404,405,406,407],"Spinocerebellar Ataxia","Natural History","Genetic Modifiers","Biomarkers","2026-07-30",{"date":410,"type":411},"2026-08-03","ACTUAL",{"date":413,"type":411},"2010-04",{"date":415,"type":389},"2030-12",{"name":350,"class":6},17]