[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"disorder-of-sex-development-46xy\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:disorder-of-sex-development-46xy":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,41],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":4,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":29,"lastUpdatePostDateStruct":30,"startDateStruct":33,"completionDateStruct":35,"leadSponsor":37,"locationsCount":40},"100505945","search-for-structural-variants-in-patients-with-dsd-and-inconclusive-molecular-diagnosis-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":20,"type":21},20,"ESTIMATED","INTERVENTIONAL",[24],"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.",[27],"Disorder of Sex Development, 46,XY","RECRUITING","2025-09-24",{"date":31,"type":32},"2025-09-30","ACTUAL",{"date":34,"type":32},"2024-02-05",{"date":36,"type":21},"2026-02-15",{"name":38,"class":39},"University Hospital, Montpellier","OTHER",1,{"id":42,"slug":43,"hasResults":11,"nctId":44,"briefTitle":45,"officialTitle":45,"acronym":46,"eligibilityCriteria":47,"healthyVolunteers":48,"sex":49,"minAge":4,"maxAge":50,"enrollmentInfo":51,"targetDuration":53,"studyType":54,"phases":4,"briefSummary":55,"conditions":56,"keywords":62,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":67,"lastUpdatePostDateStruct":68,"startDateStruct":70,"completionDateStruct":72,"leadSponsor":74,"locationsCount":40},"100569269","gonadal-tissue-cryopreservation-for-fertility-preservation-in-children-with-a-disorder-of-sex-development-100569269","NCT06692049","Gonadal Tissue Cryopreservation for Fertility Preservation in Children with a Disorder of Sex Development","DSD","Inclusion Criteria:\n\n* Individual \\\u003C 30 years of age\n* Children diagnosed with a disorder of sex development who have any risk for malignancy in their gonadal tissue or will have their gonads removed for another clinical indication\n\nExclusion Criteria:\n\n* Pregnant children\n* Patients likely to retain inherent fertility and reproductive function\n* Children deemed high risk for perioperative complications\n* Patients 12-18 unable to provide assent (i.e. significant psychiatric problems\u002Fcognitive delay)\n* Patients 18 and older unable to provide consent (i.e. significant psychiatric problems\u002Fcognitive delay)",true,"ALL","30 Years",{"count":52,"type":21},250,"10 Years","OBSERVATIONAL","The purpose of this study is to offer gonadal tissue freezing and storage to children who are diagnosed with a disorder of sex development (DSD), who are at increased risk of infertility and certain malignancies (cancer). This study involves the storage of gonadal tissue that is being removed for medical reasons (e.g. prevention of cancer development). It includes the processing and freezing of this gonadal tissue, hopefully for potential future use. The tissue will then be stored long-term until the child wishes to try to use the tissue.",[57,58,59,60,27,61],"DSD, 46,XY","DSD, Ovotesticular","DSD, Sex Chromosome","Disorders of Sex Development","Disorder of Sex Development, 46,Xy, Cbx2-Related",[46,63,64,65,66],"GTC","Gonadectomy","Cryopreservation","Fertility Preservation","2024-11-14",{"date":69,"type":32},"2024-11-18",{"date":71,"type":32},"2018-04-04",{"date":73,"type":21},"2035-12-31",{"name":75,"class":39},"Erin Rowell"]