[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"genetic-eye-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:genetic-eye-disease":24},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,41],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":11,"sex":15,"minAge":16,"maxAge":17,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":25,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":29,"lastUpdatePostDateStruct":30,"startDateStruct":33,"completionDateStruct":35,"leadSponsor":37,"locationsCount":40},"100215146","whole-exome-and-whole-genome-sequencing-for-genotyping-of-inherited-and-congenital-eye-conditions-100215146",false,"NCT02077894","Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions","* INCLUSION CRITERIA:\n\nTo be eligible, participants must meet the following criteria:\n\n1. Participant is affected with an eye condition under study or is a family member of an affected individual who will be informative for ES\u002FGS analysis and interpretation.\n2. Participant or legally authorized representative (LAR) of participant understands and signs the informed consent document.\n\nEXCLUSION CRITERIA:\n\n1. Participants who cannot comply with study procedures are ineligible.\n2. Participants who are minors are ineligible if they do not have a parent\u002FLAR who can consent and make decisions on their behalf. Participants who are or become decisionally impaired are ineligible if they do not have, or are unable to obtain, a legally authorized representative who can consent and make decisions on their behalf.\n3. Participants who are minors and under joint custody are ineligible if parents disagree about study participation.\n4. Prospective participants or their parent\u002FLAR who, based on the judgment of the team, appear to have impaired ability to understand and appropriately use complex medical and genetic information, or to cope with potentially life altering medical information, will be ineligible.","ALL","1 Day","120 Years",{"count":19,"type":20},2000,"ESTIMATED","OBSERVATIONAL","Objective: The objective of this study is to identify genetic causes of inherited eye conditions through whole exome or whole genome sequencing (referred to as exome sequencing and genome sequencing in the remainder of the document). This includes identifying mutations in known genes or novel genes for recognized conditions, as well as identifying mutations in novel genes for previously uncharacterized genetic conditions involving the eye.\n\nStudy Population: We plan to recruit 2,000 participants, to include both participants with an eye condition under study and unaffected family members. Ideally unaffected family members will be parents of an affected participant.\n\nDesign: Participants will be self-referred or referred by an outside clinician. They will preferably be evaluated at the National Institutes of Health (NIH), but the option to participate offsite will be offered. Participants evaluated onsite will be recruited through other pre-existing NIH protocols, such as the National Eye Institute (NEI) Screening protocol (08-EI-0102), the NEI Ocular Natural History protocol (16-EI-0134), the Genetics of Inherited Eye Disease protocol (15-EI-0128), and the Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC) protocol (13-EI-0049).\n\nOffsite participants will be screened via phone or secure videoconference, and records will be requested for evaluation of affected participants. Both affected and unaffected eligible participants will undergo genetic counseling and will provide a blood sample and\u002For saliva sample for exome or genome sequencing. Biological relationships will be confirmed prior to exome or genome sequencing. Sequence data will be analyzed for primary variants and secondary findings, unless participants choose to opt-out of secondary analysis and reporting. All sequence variants deemed clinically relevant will be validated in a Clinical Laboratory Improvement Amendment (CLIA)-certified laboratory. The results will be returned to the participant in-person, secure videoconference, or by telephone.\n\nOutcome Measures: This is an etiologic study that will generate molecular information about previously-recognized conditions for which participants did not have a molecular diagnosis, as well as molecular information for previously uncharacterized conditions involving the eye....",[24],"Genetic Eye Disease",[26,24,27],"Whole Genome Sequencing","Natural History","RECRUITING","2026-06-23",{"date":31,"type":32},"2026-06-24","ACTUAL",{"date":34,"type":32},"2014-08-05",{"date":36,"type":20},"2029-08-05",{"name":38,"class":39},"National Eye Institute (NEI)","NIH",1,{"id":42,"slug":43,"hasResults":11,"nctId":44,"briefTitle":45,"officialTitle":46,"acronym":4,"eligibilityCriteria":47,"healthyVolunteers":48,"sex":15,"minAge":49,"maxAge":17,"enrollmentInfo":50,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":52,"conditions":53,"keywords":54,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":57,"lastUpdatePostDateStruct":58,"startDateStruct":60,"completionDateStruct":62,"leadSponsor":64,"locationsCount":40},"100245273","genetics-of-inherited-eye-disease-100245273","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,"1 Year",{"count":51,"type":20},1500,"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.",[24],[55,56],"Rare","Ocular","2026-06-04",{"date":59,"type":32},"2026-06-05",{"date":61,"type":32},"2015-06-22",{"date":63,"type":20},"2030-09-01",{"name":38,"class":39}]