[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100505945":3},{"organization":4,"armGroups":7,"interventions":14,"overallOfficials":20,"centralContacts":24,"locations":33,"responsibleParty":57,"collaborators":19,"id":59,"slug":19,"hasResults":60,"nctId":61,"briefTitle":62,"officialTitle":63,"acronym":64,"eligibilityCriteria":65,"healthyVolunteers":60,"sex":66,"minAge":67,"maxAge":19,"enrollmentInfo":68,"targetDuration":19,"studyType":71,"phases":72,"briefSummary":74,"conditions":75,"keywords":19,"overallStatus":36,"whyStopped":19,"lastUpdateSubmitDate":77,"lastUpdatePostDateStruct":78,"startDateStruct":81,"completionDateStruct":83,"leadSponsor":85,"locationsCount":86},{"fullName":5,"class":6},"University Hospital, Montpellier","OTHER",[8],{"label":9,"type":10,"description":11,"interventionNames":12},"patients with DSD and inconclusive molecular diagnosis","EXPERIMENTAL","The one arm of the study will have a venous blood draw as part of the research. 1 EDTA tube of 5mL will be collected.",[13],"Diagnostic Test: Identify structural variants by Optical Genome Mapping of DNA extracted from blood leukocytes",[15],{"type":16,"name":17,"description":11,"armGroupLabels":18,"otherNames":19},"DIAGNOSTIC_TEST","Identify structural variants by Optical Genome Mapping of DNA extracted from blood leukocytes",[9],null,[21],{"name":22,"affiliation":5,"role":23},"Françoise PARIS, MD PhD","PRINCIPAL_INVESTIGATOR",[25,29],{"name":22,"role":26,"phone":27,"phoneExt":19,"email":28},"CONTACT","+33615106371","f-paris@chu-montpellier.fr",{"name":30,"role":26,"phone":31,"phoneExt":19,"email":32},"Anne BERGOUGNOUX, PharmD PhD","+33411759879","anne.bergougnoux@inserm.fr",[34],{"facility":35,"status":36,"city":37,"state":19,"zip":38,"country":39,"cosmosGeoPoint":40,"geoPoint":45,"contacts":46},"University Hospital Montpellier","RECRUITING","Montpellier","34000","France",{"type":41,"coordinates":42},"Point",[43,44],3.87635,43.61093,{"lat":44,"lon":43},[47,48,51,53,55],{"name":30,"role":26,"phone":19,"phoneExt":19,"email":19},{"name":49,"role":50,"phone":19,"phoneExt":19,"email":19},"Nicolas KALFA, MD PhD","SUB_INVESTIGATOR",{"name":52,"role":50,"phone":19,"phoneExt":19,"email":19},"Jacques PUECHBERTY, MD PhD",{"name":54,"role":50,"phone":19,"phoneExt":19,"email":19},"Vincent GATINOIS, MD",{"name":56,"role":50,"phone":19,"phoneExt":19,"email":19},"Franck PELLESTOR, PUPH",{"type":58,"investigatorFullName":19,"investigatorTitle":19,"investigatorAffiliation":19,"oldNameTitle":19,"oldOrganization":19},"SPONSOR","100505945",false,"NCT05867979","Search for Structural Variants in Patients With DSD and Inconclusive Molecular Diagnosis","Search for Structural Variants in Patients With Disorders of Sex Development (DSD) and Inconclusive Molecular Diagnosis GENEXPLOR-DSD","GENEXPLOR","Inclusion Criteria:\n\n* homogeneous XY male karyotype.\n* patient at least 6 months old\n* severe to moderate DSD (Prader 1 to 5) for which the molecular diagnosis is inconclusive after a gene panel analysis.\n\nExclusion Criteria:\n\n* subject with a homogeneous or mosaic XX, or monosomal X karyotype.\n* subject with an aneuploidy.\n* subject with a conclusive molecular diagnosis explaining the observed DSD (i.e. carrier of a causal genotype already well characterized by functional studies)","MALE","6 Months",{"count":69,"type":70},20,"ESTIMATED","INTERVENTIONAL",[73],"NA","The goal of this clinical trial is to identify structural variants by Optical Genome Mapping (OGM) in the described participant population.\n\nThe main questions it aims to answer are:\n\n* Identify constitutional structural variants by OGM of DNA extracted from blood leukocytes of patients with DSD for which the molecular diagnosis is inconclusive.\n* Identify mosaic structural variants (present in a subpopulation of somatic cells only) by OGM of DNA extracted from blood leukocytes of patients with DSD for which the molecular diagnosis is inconclusive.\n* Compare the diagnostic yields of OGM and of Comparative Genome Hybridization Array (CGH array) methods.\n* Compare the diagnostic yields of the OGM and of Whole Genome Sequencing (National Sequencing Program), only if performed.\n\nParticipants will be required to:\n\n* a follow-up interview with a physician to review their own and family medical and surgical history, with a focusing on DSD.\n* An interview to assess their exposure to environmental pollutants during fetal life, using a validated questionnaire.\n* a blood test with a 5mL tube to perform optical genome mapping analysis.",[76],"Disorder of Sex Development, 46,XY","2025-09-24",{"date":79,"type":80},"2025-09-30","ACTUAL",{"date":82,"type":80},"2024-02-05",{"date":84,"type":70},"2026-02-15",{"name":5,"class":6},1]