[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"skeletal-dysplasia\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:skeletal-dysplasia":24},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,43],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":25,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":31,"lastUpdatePostDateStruct":32,"startDateStruct":35,"completionDateStruct":37,"leadSponsor":39,"locationsCount":42},"100458286","data-collection-of-patients-with-rare-bone-diseases-100458286",false,"NCT05247645","Data Collection of Patients With Rare Bone Diseases","Structured Collection of Data Relating to Rare Diseases With Predominantly Skeletal Involvement","RD-DATA","Inclusion Criteria:\n\n* All patients affected by rare diseases with predominantly skeletal involvement\n\nExclusion Criteria:\n\n* Any condition unrelated to rare diseases with predominantly skeletal involvement","ALL",{"count":19,"type":20},1000,"ESTIMATED","OBSERVATIONAL","RD-DATA is a retrospective and prospective data collection, finalized for care and research purposes. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains: personal information, clinical data, genetic data, genealogical data, surgeries, etc.\n\nThis approach has been developed to corroborate and integrate data from different sources and evaluating several aspects of the diseases and to correlate genetic background and phenotypic outcomes, in order to better investigate diseases pathophysiology. Due to legal requirements, institutional directives and organizational issues, we are unable to include individuals residing outside Italy in the registry at this time. We are currently engaged in the preparation of a recruitment process for individuals residing outside Italy.",[24],"Skeletal Dysplasia",[26,27,28,29],"Rare Disease with predominantly skeletal involvement","Disease Evolution","Data Collection","Natural History Study","RECRUITING","2025-11-17",{"date":33,"type":34},"2025-11-20","ACTUAL",{"date":36,"type":34},"2020-10-10",{"date":38,"type":20},"2045-10-09",{"name":40,"class":41},"Luca Sangiorgi","OTHER",1,{"id":44,"slug":45,"hasResults":11,"nctId":46,"briefTitle":47,"officialTitle":47,"acronym":48,"eligibilityCriteria":49,"healthyVolunteers":50,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":51,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":53,"conditions":54,"keywords":4,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":58,"lastUpdatePostDateStruct":59,"startDateStruct":61,"completionDateStruct":63,"leadSponsor":65,"locationsCount":42},"100506594","decoding-the-genetic-landscape-of-skeletal-diseases-100506594","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,{"count":52,"type":20},450,"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.",[55,24,56,57],"Genetic Skeletal Diseases","Molecular Causes","Skeletal Disorder","2023-05-16",{"date":60,"type":34},"2023-05-25",{"date":62,"type":34},"2015-01-01",{"date":64,"type":20},"2026-12-31",{"name":66,"class":41},"Karolinska Institutet"]