[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100578163":3},{"organization":4,"armGroups":7,"interventions":10,"overallOfficials":11,"centralContacts":15,"locations":21,"responsibleParty":43,"collaborators":10,"id":45,"slug":46,"hasResults":47,"nctId":48,"briefTitle":49,"officialTitle":49,"acronym":50,"eligibilityCriteria":51,"healthyVolunteers":47,"sex":52,"minAge":10,"maxAge":10,"enrollmentInfo":53,"targetDuration":10,"studyType":56,"phases":10,"briefSummary":57,"conditions":58,"keywords":65,"overallStatus":24,"whyStopped":10,"lastUpdateSubmitDate":75,"lastUpdatePostDateStruct":76,"startDateStruct":79,"completionDateStruct":81,"leadSponsor":83,"locationsCount":84},{"fullName":5,"class":6},"University Hospital, Clermont-Ferrand","OTHER",[8],{"label":9,"type":10,"description":10,"interventionNames":10},"Serie of patients with a molecular diagnosis of DeSanto-Shinawi Syndrome",null,[12],{"name":13,"affiliation":5,"role":14},"Florian CHERIK","PRINCIPAL_INVESTIGATOR",[16],{"name":17,"role":18,"phone":19,"phoneExt":10,"email":20},"Lise LACLAUTRE","CONTACT","334.73.754.963","promo_interne_drci@chu-clermontferrand.fr",[22],{"facility":23,"status":24,"city":25,"state":26,"zip":27,"country":28,"countryCode":29,"cosmosGeoPoint":30,"geoPoint":35,"contacts":36},"Clermont-Ferrand University Hospital","RECRUITING","Clermont-Ferrand","Auvergne","63000","France","FR",{"type":31,"coordinates":32},"Point",[33,34],3.08682,45.77969,{"lat":34,"lon":33},[37,40],{"name":13,"role":18,"phone":38,"phoneExt":10,"email":39},"+33473750654","fcherik@chu-clermontferrand.fr",{"name":41,"role":18,"phone":10,"phoneExt":10,"email":42},"Marie-Gabrielle DELORME GUINAND","mgdelormeguinand@chu-clermontferrand.fr",{"type":44,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR","100578163","further-delineation-of-the-de-santo-shinawi-syndrome-phenotype-using-a-series-of-individuals-carrying-a-pathogenic-variant-of-the-wac-gene-100578163",false,"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.","ALL",{"count":54,"type":55},50,"ESTIMATED","OBSERVATIONAL","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.",[59,60,61,62,63,64],"WAC","DeSanto-Shinawi Syndrome","DESSH","WAC SYNDROME","OMIM#616708","ORPHA:466943",[66,67,68,69,59,70,71,72,61,73,63,64,74],"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":77,"type":78},"2025-02-04","ACTUAL",{"date":80,"type":78},"2024-11-07",{"date":82,"type":55},"2027-11",{"name":5,"class":6},1]