[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100143971":3},{"organization":4,"armGroups":7,"interventions":10,"overallOfficials":15,"centralContacts":20,"locations":29,"responsibleParty":50,"collaborators":10,"id":52,"slug":53,"hasResults":54,"nctId":55,"briefTitle":56,"officialTitle":57,"acronym":10,"eligibilityCriteria":58,"healthyVolunteers":54,"sex":59,"minAge":60,"maxAge":61,"enrollmentInfo":62,"targetDuration":10,"studyType":65,"phases":10,"briefSummary":66,"conditions":67,"keywords":70,"overallStatus":32,"whyStopped":10,"lastUpdateSubmitDate":73,"lastUpdatePostDateStruct":74,"startDateStruct":77,"completionDateStruct":10,"leadSponsor":79,"locationsCount":80},{"fullName":5,"class":6},"National Institutes of Health Clinical Center (CC)","NIH",[8,12],{"label":9,"type":10,"description":11,"interventionNames":10},"Affected",null,"Participants affected by Plaquenil induced retinal toxicity",{"label":13,"type":10,"description":14,"interventionNames":10},"Unaffected","control participants without Plaquenil induced retinal toxicity",[16],{"name":17,"affiliation":18,"role":19},"Emily Y Chew, M.D.","National Eye Institute (NEI)","PRINCIPAL_INVESTIGATOR",[21,26],{"name":22,"role":23,"phone":24,"phoneExt":10,"email":25},"Faith F Chen","CONTACT","(301) 402-1369","chenfa@nei.nih.gov",{"name":17,"role":23,"phone":27,"phoneExt":10,"email":28},"(301) 496-6583","echew@nei.nih.gov",[30],{"facility":31,"status":32,"city":33,"state":34,"zip":35,"country":36,"countryCode":37,"cosmosGeoPoint":38,"geoPoint":43,"contacts":44},"National Institutes of Health Clinical Center","RECRUITING","Bethesda","Maryland","20892","United States","US",{"type":39,"coordinates":40},"Point",[41,42],-77.10026,38.98067,{"lat":42,"lon":41},[45],{"name":46,"role":23,"phone":47,"phoneExt":48,"email":49},"For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)","800-411-1222","TTY dial 711","ccopr@nih.gov",{"type":51,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR","100143971","genotype-phenotype-study-of-patients-with-plaquenil--induced-retinal-toxicity-with-evaluation-of-the-abca4-gene-100143971",false,"NCT01145196","Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 Gene","Genotype - Phenotype Study of Patients With Plaquenil-induced Retinal Toxicity","* INCLUSION CRITERIA:\n\n  1\\. Affected participants must be 18 years of age or older and have:\n* History of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) or Sjogren's syndrome, and\n* History of Plaquenil(R) use, and\n* Evidence of Plaquenil(R)-induced retinal toxicity, based on clinical findings.\n\n  2\\. Unaffected volunteers must be 18 years of age or older and have:\n* History of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) or Sjogren's syndrome, and\n* History of Plaquenil(R) use, and\n* No retinal disease upon examination within the last six months.\n\n  3\\. All participants must be able to:\n* Provide their own consent, and\n* Safely provide a blood sample.\n\n\\\u003CTAB\\>\n\nEXCLUSION CRITERIA:\n\nParticipants with other known (genetic) retinal disease including but not limited to: Stargardt's disease and cone or cone-rod dystrophy whose diagnosis preceded their Plaquenil(R) use. Participants with no known previous genetic diagnosis but with clinical findings associated with a genetic diagnosis, such as parafoveal or macular flecks which are associated with Stargardt's disease or fundus flavimaculatus, will also be excluded.","ALL","18 Years","120 Years",{"count":63,"type":64},320,"ESTIMATED","OBSERVATIONAL","Background:\n\n\\- Plaquenil (hydroxychloroquine) is an anti-inflammatory drug that is used to treat some autoimmune diseases such as lupus and rheumatoid arthritis. This drug can damage the retina by causing a condition called Plaquenil-induced retinal toxicity, which may lead to vision loss. However, most people taking Plaquenil do not develop this problem. Researchers are interested in studying whether differences in a person's genes explain why some people develop Plaquenil-induced retinal toxicity while others do not.\n\nObjectives:\n\n\\- To investigate possible correlations between certain genes or genetic mutations and Plaquenil-induced retinal toxicity.\n\nEligibility:\n\n* Individuals at least 18 years of age who have previously used Plaquenil.\n* History of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), or Sjogren's syndrome.\n* Both individuals who have and have not developed Plaquenil-induced retinal toxicity will be eligible for this study.\n\nDesign:\n\n* The study requires five annual outpatient visits to the NIH Clinical Center.\n* Participants will provide a personal and family medical history, and will have a full eye examination.\n* Participants will also provide blood samples for genetic analysis, including whole exome and whole genome sequencing.\n* No treatment will be provided as part of this protocol.",[68,69],"Genotype","Retinal Disease",[69,71,72],"Plaquenil-Induced","Natural History","2026-06-23",{"date":75,"type":76},"2026-06-24","ACTUAL",{"date":78,"type":76},"2010-08-23",{"name":18,"class":6},1]