[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100245273":3},{"organization":4,"outcomesModule":7,"designInfo":28,"detailedDescription":31,"studyPopulation":32,"armGroups":33,"interventions":27,"overallOfficials":40,"centralContacts":45,"locations":51,"responsibleParty":72,"collaborators":27,"id":74,"slug":27,"hasResults":75,"nctId":76,"briefTitle":77,"officialTitle":78,"acronym":27,"eligibilityCriteria":79,"healthyVolunteers":80,"sex":81,"minAge":82,"maxAge":83,"enrollmentInfo":84,"targetDuration":27,"studyType":87,"phases":27,"briefSummary":88,"conditions":89,"keywords":91,"overallStatus":54,"whyStopped":27,"lastUpdateSubmitDate":94,"lastUpdatePostDateStruct":95,"startDateStruct":98,"completionDateStruct":100,"leadSponsor":102,"locationsCount":103},{"fullName":5,"class":6},"National Institutes of Health Clinical Center (CC)","NIH",{"primaryOutcomes":8,"secondaryOutcomes":13,"otherOutcomes":27},[9],{"measure":10,"description":11,"timeFrame":12},"Establish cohort","Establish an initial \"critical mass\" of participants and knowledge to develop disease-specific protocols for specific inherited eye conditions.","Ongoing",[14,18,21,24],{"measure":15,"description":16,"timeFrame":17},"Suggest best clinical outcome measures","Suggesting the best clinical outcome measures to follow patients with various inherited eye diseases","ongoing",{"measure":19,"description":20,"timeFrame":17},"Revealing systematic comorbidities","Revealing systemic comorbidities that occur in patients with various inherited eye diseases.",{"measure":22,"description":23,"timeFrame":17},"Provide a mechanism for collecting biological samples","Provide a mechanism for collecting biological samples from well-phenotyped subjects for basic laboratory research",{"measure":25,"description":26,"timeFrame":17},"Determine the genetic cause(s) and molecular pathogenesis","Determine the genetic causes(s) and molecular pathogenesis of a known or suspected inherited disorder of vision in an individual patient and his\u002Fher family.",null,{"allocation":27,"interventionModel":27,"interventionModelDescription":27,"primaryPurpose":27,"observationalModel":29,"timePerspective":30,"maskingInfo":27},"COHORT","PROSPECTIVE","OBJECTIVE:\n\nMolecular genetics and genomics are revolutionizing the delivery of medicine in general and ophthalmology in particular. New treatment and prevention strategies rely on a detailed understanding of the genetics and molecular pathogenesis of vision-threatening disease. In addition, in order to determine whether an intervention is therapeutic, we must first have some understanding of what the best clinical outcome variables are for measuring a treatment effect. Because our ultimate goal is to develop disease-specific protocols for specific inherited conditions, establishing this protocol will help us establish an initial critical mass of patients and of knowledge to write such protocols; as such, this protocol will be hypothesis generating. A secondary aim of this protocol is to provide a mechanism for obtaining research samples from subjects that may be used for laboratory investigations; in this case, the basic research may be both hypothesis generating and\u002For hypothesis testing. Lastly, the Ophthalmic Genetics Branch, as a leader in the field and a sponsor of a clinical training program, should have the ability to serve as a tertiary referral center for the nation in the area of undiagnosed genetic eye diseases.\n\nSTUDY POPULATION:\n\nOne thousand one hundred (1100) individuals with inherited eye diseases and 400 healthy volunteers (the unaffected relatives of affected participants) will be enrolled.\n\nDESIGN:\n\nThis is a combined evaluation\u002Ftreatment protocol and a genetic repository study. In general, participants will undergo a complete, age-appropriate, baseline examination and may provide a blood or saliva sample. Some participants may undergo more specialized ophthalmic and\u002For systemic testing, if clinically indicated by the investigator. Data and specimens generated through clinical care procedures may be collected and analyzed. The data and images obtained from these tests may be used for determining eligibility into another NEI protocol. Additionally, the collection of these data will help meet the primary research objectives of this study. Participants may be asked to complete optional participant reported outcome (PRO) questionnaires which will be assigned based on current diagnosis and previous testing. In a small number of cases, collection of blood, readily available biospecimens and body fluids (e.g., urine, saliva, tear fluid, stool, hair or cheek swab samples), conjunctival swab or lacrimal gland biopsy, impression cytology, and\u002For a punch skin biopsy may also be performed for research purposes.\n\nOUTCOME MEASURES:\n\nGiven the breadth of ages and disease processes covered under this protocol, we will not systematically obtain any single outcome variable beyond visual acuity on research subjects. However, detailed, disease-specific findings will be collected through the NEI electronic medical record. Findings from systemic testing and from outside exams may be tabulated in a separate, secure database in the laboratory of the Principal Investigator (PI).","A total of 1500 participants may be enrolled into this study. One thousand one-hundred (1,100) participants with known or suspected eye diseases and 400 healthy volunteers (unaffected relatives of affected participants) will be accrued for this study. Self-referral is permitted and participants may enroll as a referral from another NEI study.",[34,37],{"label":35,"type":27,"description":36,"interventionNames":27},"Affected Participants","Participants with eye disease",{"label":38,"type":27,"description":39,"interventionNames":27},"Healthy volunteers","Unaffected first degree relatives of participants with a known or suspected inherited eye disease.",[41],{"name":42,"affiliation":43,"role":44},"Laryssa A Huryn, M.D.","National Eye Institute (NEI)","PRINCIPAL_INVESTIGATOR",[46],{"name":47,"role":48,"phone":49,"phoneExt":27,"email":50},"Daniel W Claus, R.N.","CONTACT","(301) 451-1621","daniel.claus@nih.gov",[52],{"facility":53,"status":54,"city":55,"state":56,"zip":57,"country":58,"countryCode":59,"cosmosGeoPoint":60,"geoPoint":65,"contacts":66},"National Institutes of Health Clinical Center","RECRUITING","Bethesda","Maryland","20892","United States","US",{"type":61,"coordinates":62},"Point",[63,64],-77.10026,38.98067,{"lat":64,"lon":63},[67],{"name":68,"role":48,"phone":69,"phoneExt":70,"email":71},"For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)","800-411-1222","TTY dial 711","ccopr@nih.gov",{"type":73,"investigatorFullName":27,"investigatorTitle":27,"investigatorAffiliation":27,"oldNameTitle":27,"oldOrganization":27},"SPONSOR","100245273",false,"NCT02471287","Genetics of Inherited Eye Disease","The Genetics of Inherited Eye Disease","* INCLUSION CRITERIA:\n\nParticipants will be eligible if they:\n\n1. Have a known or suspected inherited eye disease OR are an unaffected (usually first degree) relative of a participant with a known or suspected inherited eye disease.\n2. Have the ability to cooperate with an age-appropriate eye exam.\n3. Have the ability to understand and sign an informed consent or have a parent\u002Flegal guardian to do so if they are minor children or have a legally authorized representative if they are adults without consent capacity. Unaffected adult relatives of a participant should be able\n\nto provide consent.\n\nEXCLUSION CRITERIA:\n\nParticipants will not be eligible if:\n\n1. They are unwilling or unable to be followed as clinically indicated.\n2. They have a clear, non-genetic disease etiology (unless they are an unaffected relative).\n3. Their participation would not contribute to the NEI research mission, at the discretion of the PI.\n\nExclusion Criteria for MRI (if applicable)\n\nParticipants will not be eligible for optional MRI procedure if:\n\n1. They have metal in their body which would make having an MRI scan unsafe, such as pacemakers, stimulators, pumps, aneurysm clips, metallic prostheses, artificial heart valves, cochlear implants or shrapnel fragments, or if they were a welder or metal worker, since they may small metal fragments in the eye.\n2. They have claustrophobia and would feel uncomfortable in the MRI machine.\n3. They are not able to lie comfortably on their back for up to one (1) hour.",true,"ALL","1 Year","120 Years",{"count":85,"type":86},1500,"ESTIMATED","OBSERVATIONAL","Background:\n\nResearch has identified some of the genes involved in inherited eye diseases. But for many of these diseases, the genes are not yet known. Researchers want to try to find these genes. They also hope to learn more about how symptoms differ in people with similar gene changes.\n\nObjective:\n\nTo learn more about genes involved in eye diseases.\n\nEligibility:\n\nPeople who have a known or suspected inherited eye disease, and their relatives.\n\nDesign:\n\n* All participants will have a medical history, physical exam, and eye exam. They will have blood taken.\n* Participants with an eye disease may have eye cell samples taken using a swab or biopsy procedure.\n* Participants may have a skin biopsy. A 3mm piece of skin will be removed.\n* Participants may provide samples of tears, urine, saliva, stool, hair, or inner cheek cells.\n* Participants may have a retina test. They may also have a test that uses light to measure retina thickness.\n* Participants may have an eye movement test. Electrodes will be placed on the skin next to both eyes.\n* Participants may have a fluorescein angiography. A dye will be given through an intravenous line in the arm. A camera will take pictures of the dye as it flows through the eyes blood vessels.\n* Participants may have microperimetry. They will sit at a computer screen and press a button when they see a light.\n* Participants may have an eye movement test. They will wear contact lenses or goggles and watch a series of spots on a computer screen.\n* Participants may complete a color vision test.\n* Participants will provide a specimen for genetic testing.\n* Participants may have a MRI.\n* Participants may complete questionnaires.",[90],"Genetic Eye Disease",[92,93],"Rare","Ocular","2026-06-04",{"date":96,"type":97},"2026-06-05","ACTUAL",{"date":99,"type":97},"2015-06-22",{"date":101,"type":86},"2030-09-01",{"name":43,"class":6},1]