[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100624713":3},{"organization":4,"armGroups":7,"interventions":32,"overallOfficials":37,"centralContacts":41,"locations":50,"responsibleParty":71,"collaborators":73,"id":77,"slug":78,"hasResults":79,"nctId":80,"briefTitle":81,"officialTitle":81,"acronym":10,"eligibilityCriteria":82,"healthyVolunteers":79,"sex":83,"minAge":10,"maxAge":10,"enrollmentInfo":84,"targetDuration":87,"studyType":88,"phases":10,"briefSummary":89,"conditions":90,"keywords":93,"overallStatus":53,"whyStopped":10,"lastUpdateSubmitDate":96,"lastUpdatePostDateStruct":97,"startDateStruct":100,"completionDateStruct":102,"leadSponsor":104,"locationsCount":105},{"fullName":5,"class":6},"Weill Medical College of Cornell University","OTHER",[8,14,18,21,25,29],{"label":9,"type":10,"description":11,"interventionNames":12},"Onsite Cohort with MCHS",null,"This is an in-person cohort of participants with MCHS under age 16 who will meet with investigators at the site location every 6 months for 2 years.",[13],"Other: Observation",{"label":15,"type":10,"description":16,"interventionNames":17},"Virtual Cohort with MCHS","* Has MCHS\n* Any age at the time of study enrollment\n* Sufficient internet connectivity to support video teleconferencing\n* Commitment to fill out all survey instruments",[13],{"label":19,"type":10,"description":20,"interventionNames":10},"MCHS Online Registry","* Has MCHS\n* Any age at the time of study enrollment\n* Commitment to fill out one on-line instrument",{"label":22,"type":10,"description":23,"interventionNames":24},"Onsite Cohort with any DEE","* Any DEE\n* Any age at the time of study enrollment\n* Willingness to travel to New York City four times over two years",[13],{"label":26,"type":10,"description":27,"interventionNames":28},"Virtual Cohort with Any DEE","Any DEE\n\n* Any age at the time of study enrollment\n* Sufficient internet connectivity to support video teleconferencing\n* Commitment to fill out all survey instruments",[13],{"label":30,"type":10,"description":31,"interventionNames":10},"DEE Online Registry","Any DEE\n\n* Any age at the time of study enrollment\n* Commitment to fill out one on-line instrument",[33],{"type":6,"name":34,"description":35,"armGroupLabels":36,"otherNames":10},"Observation","This intervention is observation only.",[9,22,26,15],[38],{"name":39,"affiliation":5,"role":40},"Zachary Grinspan, MD MS","PRINCIPAL_INVESTIGATOR",[42,46],{"name":39,"role":43,"phone":44,"phoneExt":10,"email":45},"CONTACT","(212) 746-3278","zag9005@med.cornell.edu",{"name":47,"role":43,"phone":48,"phoneExt":10,"email":49},"Natalie Wayland, BS","646-962-3023","naw4006@med.cornell.edu",[51],{"facility":52,"status":53,"city":54,"state":54,"zip":55,"country":56,"countryCode":57,"cosmosGeoPoint":58,"geoPoint":63,"contacts":64},"Weill Cornell Medicine","RECRUITING","New York","10021","United States","US",{"type":59,"coordinates":60},"Point",[61,62],-74.00597,40.71427,{"lat":62,"lon":61},[65,66,70],{"name":47,"role":43,"phone":48,"phoneExt":10,"email":49},{"name":67,"role":43,"phone":68,"phoneExt":10,"email":69},"Millie Stone, BA","646-962-4664","aks4017@med.cornell.edu",{"name":39,"role":40,"phone":10,"phoneExt":10,"email":10},{"type":72,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR",[74],{"name":75,"class":76},"Rare Bird Foundation","UNKNOWN","100624713","genetic-developmental-and-epileptic-encephalopathy-natural-history-study-for-clinical-trial-readiness-100624713",false,"NCT07413211","Genetic Developmental and Epileptic Encephalopathy Natural History Study for Clinical Trial Readiness","Inclusion Criteria\n\n* Molecular diagnosis of a genetic disorder associated with DEE, as confirmed by the study investigators\n* A neurological phenotype such as epilepsy or developmental delay as confirmed by the study investigators.\n* English Speaking (Arms 1, 2, 4, 5). The registries may be completed by people who speak any language.\n\nARM 1 (In person cohort)\n\n* MEF2C\n* Age 0 to 15 at the time of study enrollment.\n* Willingness to travel to New York City four times over two years\n\nARM 2 (Virtual cohort)\n\n* MEF2C\n* Any age at the time of study enrollment\n* Sufficient internet connectivity to support video teleconferencing\n* Commitment to fill out all survey instruments\n\nARM 3 (Registry)\n\n* MEF2C\n* Any age at the time of study enrollment\n* Commitment to fill out one on-line instrument\n\nARM 4 (In person cohort)\n\n* Any DEE\n* Any age at the time of study enrollment\n* Willingness to travel to New York City four times over two years\n\nARM 5 (Virtual cohort)\n\n* Any DEE\n* Any age at the time of study enrollment\n* Sufficient internet connectivity to support video teleconferencing\n* Commitment to fill out all survey instruments\n\nARM 6 (Registry)\n\n* Any DEE\n* Any age at the time of study enrollment\n* Commitment to fill out one on-line instrument\n\nExclusion Criteria\n\n* Presence of a significant non-DEE-related central nervous impairment\u002Fbehavioral disturbance that would confound the scientific rigor or interpretation of results of the study\n* History of prematurity (defined as gestational age \\\u003C35 weeks), interventricular hemorrhage, structural brain deficit, or congenital heart disease\n* Presence of a clinical comorbidity deemed by the investigator to potentially confound the typical presentation of DEE","ALL",{"count":85,"type":86},22068,"ESTIMATED","10 Years","OBSERVATIONAL","Phase 0 non-interventional longitudinal study of children and adults with Developmental and Epileptic Encephalopathy (DEE) due to a genetic cause. There are six arms of the study. Arms 1, 2, and 3 are devoted to one example DEE, MEF2C Haploinsufficiency Syndrome (MCHS). Arms 4, 5, and 6 are open to all DEE. Arm 1 (in-person) will enroll children 0 to 15, who will make in-person visits to Weill Cornell Medicine four times over two years. Arm 2 (virtual) will enroll people of all ages and older who will make virtual visits over Weill Cornell Zoom to Weill Cornell Medicine over two years (2 if 16 and older; 4 if 0 to 15). Arm 3 (registry) will enroll people of all ages in an online-only survey. Arms 4 - 6 mirror this structure but they are open to all children with DEE. Arm 4 (in-person) will enroll children of any age, who will make in-person visits every 6 months for 10 years. Arm 5 (virtual) will enroll children of any age for virtual visits, twice a year of 0 to 15, once a year if 16 or older. Arm 6 (registry) will enroll people of all ages in an online only survey.",[91,92],"MEF2C","DEE",[94,95],"MEF2C Haploinsufficiency Syndrome (MCHS)","Developmental and Epileptic Encephalopathy","2026-02-09",{"date":98,"type":99},"2026-02-17","ACTUAL",{"date":101,"type":99},"2025-02-26",{"date":103,"type":86},"2037-04-30",{"name":5,"class":6},1]