[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT05809635":3,"trial-entities:NCT05809635":137,"trial-summary:NCT05809635":142},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":7,"overall_status":8,"completion_date":9,"status_verified_date":10,"last_update_date":11,"start_date":12,"sponsor_name":13,"lead_sponsor_class":14,"has_dmc":15,"brief_summary":16,"detailed_description":17,"conditions":18,"keywords":21,"study_type":22,"primary_purpose":17,"phases":23,"enrollment_info":24,"interventions":27,"primary_outcomes":33,"secondary_outcomes":51,"sex":66,"minimum_age":17,"maximum_age":17,"healthy_volunteers":15,"eligibility_criteria":67,"std_ages":74,"locations":78,"central_contacts":130,"overall_officials":133,"references":135,"see_also_links":136},"NCT05809635","AAAT5994","Study of BEST1 Vitelliform Macular Dystrophy","Natural History Study in Retinitis Pigmentosa Caused by Mutations in the BEST1 Gene","RECRUITING","2026-05-31","2025-07","2025-07-30","2021-03-30","Columbia University","OTHER",false,"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.",null,[19,20],"Best Vitelliform Macular Dystrophy","Retinitis Pigmentosa",[],"OBSERVATIONAL",[],{"count":25,"type":26},52,"ESTIMATED",[28],{"type":14,"name":29,"description":30,"armGroupLabels":31},"Natural History Study","Longitudinal assessment of participants with BEST1 Vitelliform Macular Dystrophy",[32],"Best Vitelliform Macular Dystrophy (VMD) Participants",[34,37,40,43,45,47,49],{"measure":35,"timeFrame":36},"Medmont Dark Adapted Chromatic (DAC) Automated Perimeter","Up to 3 years",{"measure":38,"description":39,"timeFrame":36},"Full-field electroretinogram (ERG)","ERG conducted under International Society for Clinical Electrophysiology of Vision (ISCEV) Protocol.",{"measure":41,"description":42,"timeFrame":36},"Electroocoulogram (EOG)","EOG conducted under International Society for Clinical Electrophysiology of Vision (ISCEV) Protocol",{"measure":44,"timeFrame":36},"Optical Coherence Tomography (OCT)",{"measure":46,"timeFrame":36},"Fundus Autofluorescence (FAF)",{"measure":48,"timeFrame":36},"Near-infrared fundus autofluorescence (NIR-AF)",{"measure":50,"timeFrame":36},"Quantitative Fundus Autofluorescence (qAF)",[52,54,56,58,60,62,64],{"measure":53,"timeFrame":36},"Best-corrected Visual Acuity (BCVA)",{"measure":55,"timeFrame":36},"Color Fundus Photos",{"measure":57,"timeFrame":36},"Macular Integrity Assessment (MAIA) Microperimetry",{"measure":59,"timeFrame":36},"Goldman Kinetic Visual Field",{"measure":61,"timeFrame":36},"Light-adapted Static Perimetry",{"measure":63,"timeFrame":36},"Dark-adapted Chromatic Perimetry",{"measure":65,"timeFrame":36},"Full-field Stimulus Testing","ALL",{"inclusion":68,"exclusion":71,"raw_text":73},[69,70],"Ability to provide informed consent","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)",[72],"Systemic condition that prevents the participant from undergoing the exams","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",[75,76,77],"CHILD","ADULT","OLDER_ADULT",[79,93,112],{"facility":80,"status":8,"city":81,"state":81,"zip":82,"country":83,"contacts":84,"geoPoint":90},"Columbia University Irving Medical Center","New York","10032","United States",[85],{"name":86,"role":87,"phone":88,"email":89},"Stephen H Tsang, MD, PhD","CONTACT","212-342-1186","sht2@columbia.edu",{"lat":91,"lon":92},40.71427,-74.00597,{"facility":94,"status":95,"city":96,"country":97,"contacts":98,"geoPoint":109},"Institut de la Vision\u002FCentre de maladies rares du Centre Hospitalier National Ophtalmologique des Quinze-Vingts","NOT_YET_RECRUITING","Paris","France",[99,103,107],{"name":100,"role":87,"phone":101,"email":102},"Isabelle Audo, MD, PhD","+33 1 40 02 14 30","isabelle.audo@inserm.fr",{"name":104,"role":87,"phone":105,"email":106},"Camille Andrieu, MD","+33 1 40 02 14 51","candrieu@15-20.fr",{"name":100,"role":108},"PRINCIPAL_INVESTIGATOR",{"lat":110,"lon":111},48.85341,2.3488,{"facility":113,"status":8,"city":114,"country":115,"contacts":116,"geoPoint":127},"Eberhard Karls University Tubingen","Tübingen","Germany",[117,121,125],{"name":118,"role":87,"phone":119,"email":120},"Laura Kuehlewein, MD","+49 07071 29-88088","laura.kuehlewein@med.uni-tuebingen.de",{"name":122,"role":87,"phone":123,"email":124},"Katarina Stingl, MD","+49 7071 29 87421","katarina.stingl@med.uni-tuebingen.de",{"name":126,"role":108},"Eberhart Zrenner, MD",{"lat":128,"lon":129},48.52266,9.05222,[131],{"name":86,"role":87,"phone":88,"email":132},"sht2@cumc.columbia.edu",[134],{"name":86,"affiliation":13,"role":108},[],[],{"nct_id":4,"conditions":138,"biomarkers":140},[139,20],"Best vitelliform macular dystrophy",[141],"Bestrophin-1",{"nct_id":4,"found":143,"summary":144,"prompt_version":154},true,{"design":145,"status":146,"heading":147,"summary":148,"follow_up":149,"word_count":150,"commitments":151,"compensation":152,"drugs_mentioned":153},"This is an observational study, meaning no new treatments are being tested. It aims to enroll 52 participants to understand the natural progression of BEST1 VMD.","completed","Observational Study of BEST1 Vitelliform Macular Dystrophy","This study is looking at Best Vitelliform Macular Dystrophy (VMD), an eye condition that can cause vision loss. It's caused by changes in the BEST1 gene. This is an observational study, meaning researchers will watch how the condition progresses naturally over time in people with BEST1 VMD. They want to understand the disease better and find good ways to measure its changes. This information will help develop new treatments in the future. To join, you need to have a diagnosis of BEST1-associated VMD confirmed by a study doctor and be able to attend four follow-up visits over three years. The study aims to enroll 52 participants.","Participants will be followed for up to 3 years, with primary measurements taken at these time points.",106,"You would need to commit to 4 follow-up study visits over a period of up to 3 years. These visits will include eye exams like Medmont Dark Adapted Chromatic (DAC) Automated Perimeter, Full-field electroretinogram (ERG), and Electroocoulogram (EOG).","Not stated in the trial record.",[],"v2"]