[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"molecular-causes\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:molecular-causes":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,1,0,[8],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":4,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":29,"lastUpdatePostDateStruct":30,"startDateStruct":33,"completionDateStruct":35,"leadSponsor":37,"locationsCount":5},"100506594","decoding-the-genetic-landscape-of-skeletal-diseases-100506594",false,"NCT05876416","Decoding the Genetic Landscape of Skeletal Diseases","SKDLAND","Inclusion Criteria:\n\nClinically suspected skeletal dysplasia based on previous investigations\n\nAbnormal height\n\nRadiographic abnormalities of the skeleton in addition to other syndromic features\n\nHealthy relatives of the affected study participants\n\nExclusion Criteria:\n\nNo radiographic data available from clinical investigations\n\nSuspected environmental or multifactorial causes",true,"ALL",{"count":19,"type":20},450,"ESTIMATED","OBSERVATIONAL","This 5-year project aims to (1) search for genetic causes for yet unsolved congenital skeletal disorders (GSDs); (2) study consequences of the newly identified pathogenic variants in cells and in transgenic mice, (3) summarize data on natural course and complications for different GSD groups. For patients with unsolved GSD, the investigators search for molecular causes of GSDs using whole genome sequencing (WGS) and total ribonucleic acid (RNA) sequencing. Candidate gene variants are selected using genome or transcriptome sequencing data, clinical findings and screening of omics databases. Causality of the new variants is studied in cells and in transgenic mice models. Molecular and clinical findings are summarized for different GSD groups.",[24,25,26,27],"Genetic Skeletal Diseases","Skeletal Dysplasia","Molecular Causes","Skeletal Disorder","RECRUITING","2023-05-16",{"date":31,"type":32},"2023-05-25","ACTUAL",{"date":34,"type":32},"2015-01-01",{"date":36,"type":20},"2026-12-31",{"name":38,"class":39},"Karolinska Institutet","OTHER"]