[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT02077894":3,"trial-entities:NCT02077894":80,"trial-summary:NCT02077894":84},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":6,"overall_status":7,"completion_date":8,"status_verified_date":9,"last_update_date":10,"start_date":11,"sponsor_name":12,"lead_sponsor_class":13,"has_dmc":14,"brief_summary":15,"detailed_description":16,"conditions":17,"keywords":19,"study_type":22,"primary_purpose":14,"phases":23,"enrollment_info":24,"interventions":27,"primary_outcomes":28,"secondary_outcomes":33,"sex":34,"minimum_age":35,"maximum_age":36,"healthy_volunteers":37,"eligibility_criteria":38,"std_ages":42,"locations":46,"central_contacts":63,"overall_officials":72,"references":75,"see_also_links":76},"NCT02077894","140064","Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions","RECRUITING","2029-08-05","2026-07-20","2026-08-28","2014-08-05","National Eye Institute (NEI)","NIH",null,"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....","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.",[18],"Genetic Eye Disease",[20,18,21],"Whole Genome Sequencing","Natural History","OBSERVATIONAL",[],{"count":25,"type":26},2000,"ESTIMATED",[],[29],{"measure":30,"description":31,"timeFrame":32},"This is an etiologic study that will generate new genes or variants for inherited eye diseases.","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 eye conditions.","Until the affected participant has received confirmed Primary Results (PRs). Unaffected family members may or may not receive any results, but their participation will be ongoing until their affected family member receives PRs.",[],"ALL","1 Day","120 Years",false,{"inclusion":39,"exclusion":40,"raw_text":41},[],[],"* 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.",[43,44,45],"CHILD","ADULT","OLDER_ADULT",[47],{"facility":48,"status":7,"city":49,"state":50,"zip":51,"country":52,"contacts":53,"geoPoint":60},"National Institutes of Health Clinical Center,","Bethesda","Maryland","20892","United States",[54],{"name":55,"role":56,"phone":57,"phoneExt":58,"email":59},"For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)","CONTACT","800-411-1222","TTY dial 711","ccopr@nih.gov",{"lat":61,"lon":62},38.98067,-77.10026,[64,68],{"name":65,"role":56,"phone":66,"email":67},"Delphine M Blain, CGC","(301) 496-1410","delphine.blain@nih.gov",{"name":69,"role":56,"phone":70,"email":71},"Bin Guan, Ph.D.","(301) 594-0029","bin.guan@nih.gov",[73],{"name":69,"affiliation":12,"role":74},"PRINCIPAL_INVESTIGATOR",[],[77],{"label":78,"url":79},"NIH Clinical Center Detailed Web Page","https:\u002F\u002Fclinicalstudies.info.nih.gov\u002Fcgi\u002Fdetail.cgi?A_2014-EI-0064.html",{"nct_id":4,"conditions":81,"biomarkers":83},[82],"Genetic Disorder",[],{"nct_id":4,"found":85,"summary":86,"prompt_version":96},true,{"design":87,"status":88,"heading":89,"summary":90,"follow_up":91,"word_count":92,"commitments":93,"compensation":94,"drugs_mentioned":95},"This is an observational study planning to enroll 2,000 participants, including individuals with an eye condition and their family members.","completed","Genetic Testing for Inherited Eye Conditions","This study aims to find the genetic causes of inherited eye conditions by looking closely at your genes through whole exome or whole genome sequencing. This involves examining your DNA to identify changes (mutations) in known genes or to discover new genes linked to eye diseases. We are looking for 2,000 participants, including individuals with an eye condition and their family members, ideally parents. The goal is to understand the underlying genetics of these conditions, which could lead to new discoveries. The study is ongoing until affected participants receive their primary genetic results.","Participation is ongoing until the affected participant receives confirmed primary results. Unaffected family members' participation is ongoing until their affected family member receives primary results.",93,"You would provide samples for genetic testing (whole exome or whole genome sequencing). Your participation continues until the affected family member receives their primary results.","Not stated in the trial record.",[],"v2"]