[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"spinocerebellar-ataxia-type-27b\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:spinocerebellar-ataxia-type-27b":33},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,53],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":35,"overallStatus":40,"whyStopped":4,"lastUpdateSubmitDate":41,"lastUpdatePostDateStruct":42,"startDateStruct":45,"completionDateStruct":47,"leadSponsor":49,"locationsCount":52},"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":20,"type":21},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.",[25,26,27,28,29,30,31,32,33,34],"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",[36,37,38,39],"Spinocerebellar Ataxia","Natural History","Genetic Modifiers","Biomarkers","RECRUITING","2026-07-30",{"date":43,"type":44},"2026-08-03","ACTUAL",{"date":46,"type":44},"2010-04",{"date":48,"type":21},"2030-12",{"name":50,"class":51},"Lauren Moore","OTHER",17,{"id":54,"slug":55,"hasResults":11,"nctId":56,"briefTitle":57,"officialTitle":57,"acronym":4,"eligibilityCriteria":58,"healthyVolunteers":16,"sex":17,"minAge":59,"maxAge":60,"enrollmentInfo":61,"targetDuration":63,"studyType":22,"phases":4,"briefSummary":64,"conditions":65,"keywords":67,"overallStatus":40,"whyStopped":4,"lastUpdateSubmitDate":73,"lastUpdatePostDateStruct":74,"startDateStruct":76,"completionDateStruct":78,"leadSponsor":80,"locationsCount":82},"100552397","spinocerebellar-ataxia-type-27b-natural-history-study-sca27b-nhs-100552397","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","18 Years","99 Years",{"count":62,"type":21},300,"24 Months","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.",[66],"Spinocerebellar Ataxia Type 27B",[68,69,70,71,72],"ataxia","SCA27B","FGF14","Natural History Study","Outcome Validation","2026-03-30",{"date":75,"type":44},"2026-04-06",{"date":77,"type":44},"2024-06-04",{"date":79,"type":21},"2028-12-31",{"name":81,"class":51},"University Hospital Tuebingen",5]