[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100501467":3},{"organization":4,"armGroups":7,"interventions":14,"overallOfficials":19,"centralContacts":23,"locations":28,"responsibleParty":84,"collaborators":87,"id":95,"slug":10,"hasResults":96,"nctId":97,"briefTitle":98,"officialTitle":99,"acronym":10,"eligibilityCriteria":100,"healthyVolunteers":96,"sex":101,"minAge":10,"maxAge":10,"enrollmentInfo":102,"targetDuration":10,"studyType":105,"phases":10,"briefSummary":106,"conditions":107,"keywords":10,"overallStatus":31,"whyStopped":10,"lastUpdateSubmitDate":110,"lastUpdatePostDateStruct":111,"startDateStruct":114,"completionDateStruct":116,"leadSponsor":118,"locationsCount":119},{"fullName":5,"class":6},"Columbia University","OTHER",[8],{"label":9,"type":10,"description":11,"interventionNames":12},"Best Vitelliform Macular Dystrophy (VMD) Participants",null,"Participants with a clinical picture of Retinitis pigmentosa with dominant and recessive variants in the BEST1 gene",[13],"Other: Natural History Study",[15],{"type":6,"name":16,"description":17,"armGroupLabels":18,"otherNames":10},"Natural History Study","Longitudinal assessment of participants with BEST1 Vitelliform Macular Dystrophy",[9],[20],{"name":21,"affiliation":5,"role":22},"Stephen H Tsang, MD, PhD","PRINCIPAL_INVESTIGATOR",[24],{"name":21,"role":25,"phone":26,"phoneExt":10,"email":27},"CONTACT","212-342-1186","sht2@cumc.columbia.edu",[29,44,64],{"facility":30,"status":31,"city":32,"state":32,"zip":33,"country":34,"cosmosGeoPoint":35,"geoPoint":40,"contacts":41},"Columbia University Irving Medical Center","RECRUITING","New York","10032","United States",{"type":36,"coordinates":37},"Point",[38,39],-74.00597,40.71427,{"lat":39,"lon":38},[42],{"name":21,"role":25,"phone":26,"phoneExt":10,"email":43},"sht2@columbia.edu",{"facility":45,"status":46,"city":47,"state":10,"zip":10,"country":48,"cosmosGeoPoint":49,"geoPoint":53,"contacts":54},"Institut de la Vision\u002FCentre de maladies rares du Centre Hospitalier National Ophtalmologique des Quinze-Vingts","NOT_YET_RECRUITING","Paris","France",{"type":36,"coordinates":50},[51,52],2.3488,48.85341,{"lat":52,"lon":51},[55,59,63],{"name":56,"role":25,"phone":57,"phoneExt":10,"email":58},"Isabelle Audo, MD, PhD","+33 1 40 02 14 30","isabelle.audo@inserm.fr",{"name":60,"role":25,"phone":61,"phoneExt":10,"email":62},"Camille Andrieu, MD","+33 1 40 02 14 51","candrieu@15-20.fr",{"name":56,"role":22,"phone":10,"phoneExt":10,"email":10},{"facility":65,"status":31,"city":66,"state":10,"zip":10,"country":67,"cosmosGeoPoint":68,"geoPoint":72,"contacts":73},"Eberhard Karls University Tubingen","Tübingen","Germany",{"type":36,"coordinates":69},[70,71],9.05222,48.52266,{"lat":71,"lon":70},[74,78,82],{"name":75,"role":25,"phone":76,"phoneExt":10,"email":77},"Laura Kuehlewein, MD","+49 07071 29-88088","laura.kuehlewein@med.uni-tuebingen.de",{"name":79,"role":25,"phone":80,"phoneExt":10,"email":81},"Katarina Stingl, MD","+49 7071 29 87421","katarina.stingl@med.uni-tuebingen.de",{"name":83,"role":22,"phone":10,"phoneExt":10,"email":10},"Eberhart Zrenner, MD",{"type":22,"investigatorFullName":85,"investigatorTitle":86,"investigatorAffiliation":5,"oldNameTitle":10,"oldOrganization":10},"Stephen H. Tsang","Laszlo Z. Bito Professor of Ophthalmology and Professor of Pathology and Cell Biology",[88,90,92],{"name":89,"class":6},"Universität Tübingen",{"name":91,"class":6},"Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts",{"name":93,"class":94},"National Eye Institute (NEI)","NIH","100501467",false,"NCT05809635","Study of BEST1 Vitelliform Macular Dystrophy","Natural History Study in Retinitis Pigmentosa Caused by Mutations in the BEST1 Gene","Inclusion Criteria:\n\n* Ability to provide informed consent\n* Diagnosis of BEST1-associated VMD by study physician, who are trained retinal specialists in the university clinic Must be able to commit to 4 follow-up study visits (3 years)\n\nExclusion Criteria:\n\n* Systemic condition that prevents the participant from undergoing the exams","ALL",{"count":103,"type":104},52,"ESTIMATED","OBSERVATIONAL","The purpose of this study is to establish the natural history of of participants with BESTROPHIN 1 Vitelliform Macular Dystrophy.\n\nThe blinding disorder Best Vitelliform Macular Dystrophy (VMD) is caused by any one of more than 250 different mutations in the BEST1 gene.\n\nAs new treatments are developed, a clear understanding of the natural history of disease progression of BEST1 VMD is necessary. The goals of this natural history study are to:\n\n1. Report the natural history of retinal degeneration in participants with a clinical diagnosis of VMD with molecular confirmation of a pathogenic BEST1 mutation(s).\n2. Identify sensitive structural and functional outcome measures to use for future multicenter clinical trials for the treatment of BESTROPHIN 1 VMD.\n3. Compare progression of the identified structural and functional measures between the two eyes to judge the suitability of the second untreated eye as a control for a future clinical trial involving unilateral treatment\n4. Identify well-defined patient populations for future clinical trials of investigative treatments for BEST1 VMD.",[108,109],"Best Vitelliform Macular Dystrophy","Retinitis Pigmentosa","2025-07-28",{"date":112,"type":113},"2025-07-30","ACTUAL",{"date":115,"type":113},"2021-03-30",{"date":117,"type":104},"2026-05-31",{"name":5,"class":6},3]