[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100501467":3},{"organization":4,"armGroups":7,"interventions":14,"overallOfficials":19,"centralContacts":23,"locations":28,"responsibleParty":87,"collaborators":90,"id":98,"slug":99,"hasResults":100,"nctId":101,"briefTitle":102,"officialTitle":103,"acronym":10,"eligibilityCriteria":104,"healthyVolunteers":100,"sex":105,"minAge":10,"maxAge":10,"enrollmentInfo":106,"targetDuration":10,"studyType":109,"phases":10,"briefSummary":110,"conditions":111,"keywords":10,"overallStatus":31,"whyStopped":10,"lastUpdateSubmitDate":114,"lastUpdatePostDateStruct":115,"startDateStruct":118,"completionDateStruct":120,"leadSponsor":122,"locationsCount":123},{"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",[29,45,66],{"facility":30,"status":31,"city":32,"state":32,"zip":33,"country":34,"countryCode":35,"cosmosGeoPoint":36,"geoPoint":41,"contacts":42},"Columbia University Irving Medical Center","RECRUITING","New York","10032","United States","US",{"type":37,"coordinates":38},"Point",[39,40],-74.00597,40.71427,{"lat":40,"lon":39},[43],{"name":21,"role":25,"phone":26,"phoneExt":10,"email":44},"sht2@columbia.edu",{"facility":46,"status":47,"city":48,"state":10,"zip":10,"country":49,"countryCode":50,"cosmosGeoPoint":51,"geoPoint":55,"contacts":56},"Institut de la Vision\u002FCentre de maladies rares du Centre Hospitalier National Ophtalmologique des Quinze-Vingts","NOT_YET_RECRUITING","Paris","France","FR",{"type":37,"coordinates":52},[53,54],2.3488,48.85341,{"lat":54,"lon":53},[57,61,65],{"name":58,"role":25,"phone":59,"phoneExt":10,"email":60},"Isabelle Audo, MD, PhD","+33 1 40 02 14 30","isabelle.audo@inserm.fr",{"name":62,"role":25,"phone":63,"phoneExt":10,"email":64},"Camille Andrieu, MD","+33 1 40 02 14 51","candrieu@15-20.fr",{"name":58,"role":22,"phone":10,"phoneExt":10,"email":10},{"facility":67,"status":31,"city":68,"state":10,"zip":10,"country":69,"countryCode":70,"cosmosGeoPoint":71,"geoPoint":75,"contacts":76},"Eberhard Karls University Tubingen","Tübingen","Germany","DE",{"type":37,"coordinates":72},[73,74],9.05222,48.52266,{"lat":74,"lon":73},[77,81,85],{"name":78,"role":25,"phone":79,"phoneExt":10,"email":80},"Laura Kuehlewein, MD","+49 07071 29-88088","laura.kuehlewein@med.uni-tuebingen.de",{"name":82,"role":25,"phone":83,"phoneExt":10,"email":84},"Katarina Stingl, MD","+49 7071 29 87421","katarina.stingl@med.uni-tuebingen.de",{"name":86,"role":22,"phone":10,"phoneExt":10,"email":10},"Eberhart Zrenner, MD",{"type":22,"investigatorFullName":88,"investigatorTitle":89,"investigatorAffiliation":5,"oldNameTitle":10,"oldOrganization":10},"Stephen H. Tsang","Laszlo Z. Bito Professor of Ophthalmology and Professor of Pathology and Cell Biology",[91,93,95],{"name":92,"class":6},"Universität Tübingen",{"name":94,"class":6},"Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts",{"name":96,"class":97},"National Eye Institute (NEI)","NIH","100501467","study-of-best1-vitelliform-macular-dystrophy-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":107,"type":108},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.",[112,113],"Best Vitelliform Macular Dystrophy","Retinitis Pigmentosa","2025-07-28",{"date":116,"type":117},"2025-07-30","ACTUAL",{"date":119,"type":117},"2021-03-30",{"date":121,"type":108},"2026-05-31",{"name":5,"class":6},3]