[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"scn1a\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:scn1a":147},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,254],{"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":4,"studyType":19,"phases":4,"briefSummary":20,"conditions":21,"keywords":206,"overallStatus":242,"whyStopped":4,"lastUpdateSubmitDate":243,"lastUpdatePostDateStruct":244,"startDateStruct":247,"completionDateStruct":249,"leadSponsor":251,"locationsCount":5},"100151071","online-study-of-people-who-have-genetic-changes-and-features-of-autism-simons-searchlight-100151071",false,"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.","ALL",{"count":17,"type":18},100000,"ESTIMATED","OBSERVATIONAL","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.",[22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52,53,54,55,56,57,58,59,60,61,62,63,64,65,66,67,68,69,70,71,72,73,74,75,76,77,78,79,80,81,82,83,84,85,86,87,88,89,90,91,92,93,94,95,96,97,98,99,100,101,102,103,104,105,106,107,108,109,110,111,112,113,114,115,116,117,118,119,120,121,122,123,124,125,126,127,128,129,130,131,132,133,134,135,136,137,138,139,140,141,142,143,144,145,146,147,148,149,150,151,152,153,154,155,156,157,158,159,160,161,162,163,164,165,166,167,168,169,170,171,172,173,174,175,176,177,178,179,180,181,182,183,184,185,186,187,188,189,190,191,192,193,194,195,196,197,198,199,200,201,202,203,204,205],"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","MEF2C","RALGAPB","SCN1B","YY1","Xp11.22 Duplication","PACS2","MAOA","MAOB","HNRNPC","HNRNPD","HNRNPK","HNRNPR","HNRNPUL2","5P Deletion Syndrome","TCF7L2 Gene Mutation","HECW2",[207,208,209,210,211,212,213,214,215,216,217,218,219,220,221,222,223,224,225,226,227,27,30,31,228,26,28,229,29,32,33,35,36,230,40,44,45,47,52,54,56,57,61,231,66,232,233,49,234,34,37,38,41,42,43,46,50,51,235,55,236,58,60,237,64,238,239,69,70,71,240,73,74,195,196,197,198,199,200,201,202,203,241,205],"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","RECRUITING","2025-06-03",{"date":245,"type":246},"2025-06-06","ACTUAL",{"date":248,"type":4},"2010-10",{"date":250,"type":18},"2050-10",{"name":252,"class":253},"Simons Searchlight","OTHER",{"id":255,"slug":256,"hasResults":11,"nctId":257,"briefTitle":258,"officialTitle":258,"acronym":4,"eligibilityCriteria":259,"healthyVolunteers":11,"sex":15,"minAge":4,"maxAge":4,"enrollmentInfo":260,"targetDuration":4,"studyType":19,"phases":4,"briefSummary":262,"conditions":263,"keywords":266,"overallStatus":242,"whyStopped":4,"lastUpdateSubmitDate":269,"lastUpdatePostDateStruct":270,"startDateStruct":272,"completionDateStruct":274,"leadSponsor":276,"locationsCount":278},"100554855","scn1a-horizons-a-natural-history-study-of-scn1a-related-epilepsies-in-the-united-kingdom-100554855","NCT06504511","SCN1A Horizons A Natural History Study of SCN1A-related Epilepsies in the United Kingdom","Patients meeting the following inclusion criteria will be considered eligible for this study:\n\n1. Patient and\u002For legally authorised representative must be willing and able to give informed consent\u002Fassent for participation in the study.\n2. Patient and parent\u002Fcaregiver are willing and able (in the Investigator's opinion) to comply with all study requirements (including ability and willingness to comply with virtual visits).\n3. Participant has a confirmed pathogenic (class 5) or likely pathogenic (class 4. SCN1A variant, as demonstrated by genetic testing.\n\nExclusion criteria:\n\nPatient has any other significant disease or disorder which, in the opinion of the Investigator, may either put the patient at risk because of participation in the study, or may affect the patient's ability to participate in the study.",{"count":261,"type":18},400,"The aims of this prospective natural history study are to define the seizure, neuro-developmental, and behavioural characteristics of SCN1A-related epilepsies\u002FDravet syndrome in children and adults longitudinally over a period of three years. In addition, this study will compare missense and truncating genotypes in terms of i) rates of change of countable convulsive seizures per month and ii) neurodevelopmental outcome and trajectories.",[147,264,265],"Dravet Syndrome","Epilepsy",[265,147,267,268],"Natural History","Developmental Outcome","2024-07-15",{"date":271,"type":246},"2024-07-16",{"date":273,"type":246},"2023-11-20",{"date":275,"type":18},"2026-06-01",{"name":277,"class":253},"NHS Greater Glasgow and Clyde",1]