[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT04770519":3,"trial-entities:NCT04770519":76,"trial-summary:NCT04770519":82},{"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":20,"study_type":25,"primary_purpose":16,"phases":26,"enrollment_info":27,"interventions":30,"primary_outcomes":35,"secondary_outcomes":40,"sex":41,"minimum_age":16,"maximum_age":16,"healthy_volunteers":14,"eligibility_criteria":42,"std_ages":47,"locations":51,"central_contacts":65,"overall_officials":70,"references":74,"see_also_links":75},"NCT04770519","IRB-P00036313","Genetic Studies of Strabismus, Nystagmus, and Associated Disorders","RECRUITING","2030-12","2025-12","2025-12-12","2021-09-03","Boston Children's Hospital","OTHER",false,"Strabismus (misalignment of the eyes) often runs in families. In this study, the investigators are looking for genetic variants associated with strabismus and nystagmus. Three types of subects will be enrolled: (1) Families with at least 3 members with strabismus, (2) individuals with infantile esotropia and their parents and siblings, and (3) individuals with infantile nystagmus and their parents. Whole exome and\u002For whole genome sequencing will be used to identify genetic variants shared by family members with strabismus and to identify genetic causes of nystagmus.",null,[18,19],"Strabismus","Nystagmus, Congenital",[21,22,23,24],"strabismus","esotropia","exotropia","nystagmus","OBSERVATIONAL",[],{"count":28,"type":29},400,"ESTIMATED",[31],{"type":32,"name":33,"description":34},"GENETIC","whole genome sequencing or whole exome sequencing","Whole genome sequencing or whole exome sequencing will be performed for all enrolled participants.",[36],{"measure":37,"description":38,"timeFrame":39},"Genetic variants","genetic variants shared by family members with strabismus","2 years",[],"ALL",{"inclusion":43,"exclusion":44,"raw_text":46},[],[45],"paralytic strabismus in affected family members","Inclusion Criteria:\n\n\\- Member of a family with at least 3 biological relatives with strabismus. (Both affected and non-affected family members will be enrolled).\n\nOR\n\n\\- Member of a family with at least 1 individual with infantile esotropia. (Both affected and non-affected family members will be enrolled).\n\nOR\n\n\\- Member of a family with at least 1 individual with infantile nystagmus. (Both affected and non-affected family members will be enrolled).\n\nExclusion Criteria:\n\n* paralytic strabismus in affected family members",[48,49,50],"CHILD","ADULT","OLDER_ADULT",[52],{"facility":12,"status":7,"city":53,"state":54,"zip":55,"country":56,"contacts":57,"geoPoint":62},"Boston","Massachusetts","02115","United States",[58],{"name":59,"role":60,"email":61},"Mary Whitman, MD\u002FPhD","CONTACT","mary.whitman@childrens.harvard.edu",{"lat":63,"lon":64},42.35843,-71.05977,[66],{"name":67,"role":60,"phone":68,"email":69},"Kayleen Cremin, BA","857-292-3768","research.whitman@childrens.harvard.edu",[71],{"name":59,"affiliation":72,"role":73},"Assistant Professor","PRINCIPAL_INVESTIGATOR",[],[],{"nct_id":4,"conditions":77,"biomarkers":81},[78,79,80,18],"Divergent Strabismus","Internal Strabismus","Nystagmus",[],{"nct_id":4,"found":83,"summary":84,"prompt_version":94},true,{"design":85,"status":86,"heading":87,"summary":88,"follow_up":89,"word_count":90,"commitments":91,"compensation":92,"drugs_mentioned":93},"This is an observational study, meaning researchers will collect information without giving any treatments. It aims to enroll 400 participants.","completed","Genetic Studies of Strabismus and Nystagmus","This study is looking for genetic reasons behind strabismus (crossed eyes) and nystagmus (involuntary eye movements), which often run in families. Researchers will use whole genome sequencing or whole exome sequencing to analyze DNA from participants. You might be able to join if you are part of a family with at least three members who have strabismus, or if your family has someone with infantile esotropia (a type of crossed eyes in babies) or infantile nystagmus. Both affected and unaffected family members can participate. The main goal is to identify specific genetic changes linked to these eye conditions. The study aims to enroll 400 people, but its current status is unclear.","Genetic variants will be measured at 2 years.",111,"Not specified in the trial record.","Not stated in the trial record.",[33],"v2"]