[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"wac\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:wac":165},{"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":259,"eligibilityCriteria":260,"healthyVolunteers":11,"sex":15,"minAge":4,"maxAge":4,"enrollmentInfo":261,"targetDuration":4,"studyType":19,"phases":4,"briefSummary":263,"conditions":264,"keywords":270,"overallStatus":242,"whyStopped":4,"lastUpdateSubmitDate":280,"lastUpdatePostDateStruct":281,"startDateStruct":283,"completionDateStruct":285,"leadSponsor":287,"locationsCount":289},"100578163","further-delineation-of-the-de-santo-shinawi-syndrome-phenotype-using-a-series-of-individuals-carrying-a-pathogenic-variant-of-the-wac-gene-100578163","NCT06807723","Further Delineation of the De Santo Shinawi Syndrome Phenotype Using a Series of Individuals Carrying a Pathogenic Variant of the WAC Gene","2024-CF366","Inclusion Criteria:\n\n* Children and adults of any age.\n* Molecular diagnosis of a pathogenic (or likely pathogenic) variant involving the WAC gene (SNV, CNV, SV).\n\nExclusion Criteria:\n\n* Patients with a molecular diagnosis of another VP (SNV) of a gene responsible for a neurodevelopmental disorder.\n* Patient having already participated in a DESSH study with published data.\n* No patient data available.",{"count":262,"type":18},50,"The aim of this retrospective, multicenter study would be to extend the phenotypic spectrum of DeSanto Shinawi Syndrome and improve the knowledge of its evolution. To this end, the investigators would like to issue a call for international collaboration in order to create a series of new genetically diagnosed patients, not yet described in previous publications, and with a larger number of individuals evaluated in a single study. One of the aims would be to establish a set of standardized clinical and paraclinical examinations to be carried out at diagnosis and for follow-up of affected patients. This would enable patients, their families and the caregivers involved to better anticipate future management.",[165,265,266,267,268,269],"DeSanto-Shinawi Syndrome","DESSH","WAC SYNDROME","OMIM#616708","ORPHA:466943",[271,272,273,274,165,275,276,277,266,278,268,269,279],"Further delineation of the De Santo Shinawi Syndrome","Serie of patients with DESSH","Better characterization of DeSanto-Shinawi Syndrome","Series of individuals with pathogenic WAC variant","DeSanto","DeSanto-Shinawi","De Santo Shinawi","OMIM 616708","ORPHA 466943","2025-01-29",{"date":282,"type":246},"2025-02-04",{"date":284,"type":246},"2024-11-07",{"date":286,"type":18},"2027-11",{"name":288,"class":253},"University Hospital, Clermont-Ferrand",1]