[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"mef2c\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:mef2c":23},{"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":4,"maxAge":4,"enrollmentInfo":16,"targetDuration":19,"studyType":20,"phases":4,"briefSummary":21,"conditions":22,"keywords":25,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":29,"lastUpdatePostDateStruct":30,"startDateStruct":33,"completionDateStruct":35,"leadSponsor":37,"locationsCount":40},"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":17,"type":18},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.",[23,24],"MEF2C","DEE",[26,27],"MEF2C Haploinsufficiency Syndrome (MCHS)","Developmental and Epileptic Encephalopathy","RECRUITING","2026-02-09",{"date":31,"type":32},"2026-02-17","ACTUAL",{"date":34,"type":32},"2025-02-26",{"date":36,"type":18},"2037-04-30",{"name":38,"class":39},"Weill Medical College of Cornell University","OTHER",1,{"id":42,"slug":43,"hasResults":11,"nctId":44,"briefTitle":45,"officialTitle":45,"acronym":4,"eligibilityCriteria":46,"healthyVolunteers":11,"sex":15,"minAge":4,"maxAge":4,"enrollmentInfo":47,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":49,"conditions":50,"keywords":234,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":270,"lastUpdatePostDateStruct":271,"startDateStruct":273,"completionDateStruct":275,"leadSponsor":277,"locationsCount":5},"100151071","online-study-of-people-who-have-genetic-changes-and-features-of-autism-simons-searchlight-100151071","NCT01238250","Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight","Inclusion Criteria:\n\n* Subjects of any age with a genetic condition on our eligible list along with their biological family members. Current list can be found at: https:\u002F\u002Fwww.simonssearchlight.org\u002Fresearch\u002Fwhat-we-study\u002F\n* Must be fluent in English or a supported language. Current supported languages are Spanish, French, and Dutch, with more to come.\n* Able to register and participate through our online platform, which can be accessed through any device able to connect to the internet.\n* Able and willing to provide consent.\n\nExclusion Criteria:\n\n-Some genetic changes that we study have regions or variants that are not eligible for our research. This is determined during our laboratory review that is completed by trained and certified genetic counselors. These specific ineligible regions or variants can change frequently.",{"count":48,"type":18},100000,"Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders and may be associated with autism. Simons Searchlight collects medical, behavioral, learning, and developmental information from people who have these rare genetic changes. The goal of this study is to improve the clinical care and treatment for these people. Simons Searchlight partners with families to collect data and distribute it to qualified researchers.",[51,52,53,54,55,56,57,58,59,60,61,62,63,64,65,66,67,68,69,70,71,72,73,74,75,76,77,78,79,80,81,82,83,84,85,86,87,88,89,90,91,92,93,94,95,96,97,98,99,100,101,102,103,104,105,106,107,108,109,110,111,112,113,114,115,116,117,118,119,120,121,122,123,124,125,126,127,128,129,130,131,132,133,134,135,136,137,138,139,140,141,142,143,144,145,146,147,148,149,150,151,152,153,154,155,156,157,158,159,160,161,162,163,164,165,166,167,168,169,170,171,172,173,174,175,176,177,178,179,180,181,182,183,184,185,186,187,188,189,190,191,192,193,194,195,196,197,198,199,200,201,202,203,204,205,206,207,208,209,210,211,212,213,214,215,216,217,218,23,219,220,221,222,223,224,225,226,227,228,229,230,231,232,233],"16P11.2 Deletion Syndrome","16p11.2 Duplications","1Q21.1 Deletion","1Q21.1 Microduplication Syndrome (Disorder)","ACTL6B","ADNP","AHDC1","ANK2","ANKRD11","ARID1B","ASH1L","BCL11A","CHAMP1","CHD2","CHD8","CSNK2A1","CTBP1","CTNNB1 Gene Mutation","CUL3","DDX3X","DNMT3A","DSCAM","DYRK1A","FOXP1","GRIN2A","GRIN2B","HIVEP2-Related Intellectual Disability","HNRNPH2","KATNAL2","KDM5B","KDM6B","KMT2C Gene Mutation","KMT2E","KMT5B","MBD5","MED13L","PACS1","PPP2R5D-Related Intellectual Disability","PTCHD1","REST","SCN2A Encephalopathy","SETBP1 Gene Mutation","SETD5","SMARCA4 Gene Mutation","SMARCC2","STXBP1 Encephalopathy With Epilepsy","SYNGAP1-Related Intellectual Disability","TBR1","ARHGEF9","HNRNPU","PPP3CA","PPP2R1A","SLC6A1","2p16.3 Deletions","5q35 Deletions","5q35 Duplications","7q11.23 Duplications","15Q13.3 Deletion Syndrome","16p11.2 Triplications","16P12.2 Microdeletion","16P13.11 Microdeletion Syndrome (Disorder)","17Q12 Microdeletion Syndrome (Disorder)","17Q12 Duplication Syndrome","17Q21.31 Deletion Syndrome","17q21.3 Duplications","ACTB","ADSL","AFF2","ALDH5A1","ANK3","ARX","ATRX Gene Mutation","AUTS2 Syndrome","BCKDK","BRSK2","CACNA1C","CAPRIN1","CASK","CASZ1","CHD3","CIC","CNOT3","CREBBP Gene Mutation","CSDE1","CTCF","DEAF1","DHCR7","DLG4","EBF3","EHMT1","EP300 Gene Mutation","GIGYF1","GRIN1","GRIN2D","IQSEC2-Related Syndromic Intellectual Disability","IRF2BPL","KANSL1","KCNB1","KDM3B","NEXMIF","KMT2A","MBOAT7","MEIS2","MYT1L","NAA15","NBEA","NCKAP1","NIPBL","NLGN2","NLGN3","NLGN4X","NR4A2","NRXN1","NRXN2","NSD1 Gene Mutation","PHF21A","PHF3","PHIP","POMGNT1","PSMD12","RELN","RERE","RFX3","RIMS1","RORB","SCN1A","SETD2 Gene Mutation","SHANK2","SIN3A","SLC9A6","SON","SOX5","SPAST","SRCAP","TAOK1","TANC2","TCF20","TLK2","TRIO","TRIP12","UPF3B","USP9X","VPS13B","WAC","WDFY3","ZBTB20","ZNF292","ZNF462","2Q37 Deletion Syndrome","9q34 Duplications","15q15 Deletions","15Q24 Deletion","NR3C2","SYNCRIP","2q34 Duplication","2q37.3 Deletion","6q16 Deletion","15q11.2 BP1-BP2 Deletion","16p13.3 Deletion","17Q11.2 Microduplication Syndrome (Disorder)","17p13.3","Xq28 Duplication","CLCN4","CSNK2B","DYNC1H1","EIF3F","GNB1","MED13","RALGAPB","SCN1B","YY1","Xp11.22 Duplication","PACS2","MAOA","MAOB","HNRNPC","HNRNPD","HNRNPK","HNRNPR","HNRNPUL2","5P Deletion Syndrome","TCF7L2 Gene Mutation","HECW2",[235,236,237,238,239,240,241,242,243,244,245,246,247,248,249,250,251,252,253,254,255,56,59,60,256,55,57,257,58,61,62,64,65,258,69,73,74,76,81,83,85,86,90,259,95,260,261,78,262,63,66,67,70,71,72,75,79,80,263,84,264,87,89,265,93,266,267,98,99,100,268,102,103,223,224,225,226,227,228,229,230,231,269,233],"16p11.2","16p11.2 del","16p11.2 deletion","16p11.2 dup","16p11.2 duplication","chromosome 16","chromosome 16p","chromosome 16p11","chromosome 16p11.2","1q21.1","1q21.1 del","1q21.1 deletion","1q21.1 dup","1q21.1 duplication","chromosome 1","chromosome 1q","chromosome 1q21","chromosome 1q21.1","genetic mutation","genetic variant","gene variant","ASXL3","BAF190","CTNNB1","SCN2A","SYNGAP1","HIVEP2","PPP2R5D","KMT2C","SUV420H1","SETBP1","SMARCA4","STXBP1","PPP2B","TCF7L2","2025-06-03",{"date":272,"type":32},"2025-06-06",{"date":274,"type":4},"2010-10",{"date":276,"type":18},"2050-10",{"name":278,"class":39},"Simons Searchlight"]