[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"inherited-platelet-disorder\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:inherited-platelet-disorder":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":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":28,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":35,"startDateStruct":38,"completionDateStruct":40,"leadSponsor":42,"locationsCount":5},"100454380","diagnosis-and-phenotype-characterisation-using-genomics-in-patients-with-inherited-bone-marrow-failure-ibmdx-study-100454380",false,"NCT05196789","Diagnosis and Phenotype Characterisation Using Genomics in Patients With Inherited Bone Marrow Failure (IBMDx Study)","Diagnosis, Discovery and Novel Phenotype Characterisation Using Multimodal Genomics in Patients With Inherited Bone Marrow Failure and Related Disorders (IBMDx Study)","IBMDx","Inclusion Criteria:\n\n1. age ≥ 3 months\n2. able to give informed consent (or parent\u002Fguardian able to give informed consent)\n3. a clinicopathological diagnosis (or differential diagnosis) of inherited bone marrow failure syndrome or related disorder (IBMFS-RD) as per the study team\n\nExclusion Criteria:\n\n1. A clinicopathological diagnosis of an acquired bone marrow failure syndrome (including acquired aplastic anaemia and hypoplastic myelodysplastic syndrome) as per the study team\n2. Existing definitive genomic diagnosis for patient's haematological phenotype","ALL","3 Months",{"count":20,"type":21},350,"ESTIMATED","OBSERVATIONAL","This project seeks to perform whole genome sequence (WGS) and whole transcriptome sequence (WTS) analysis on 350 patients with suspected inherited bone marrow failure syndromes and related disorder (IBMFS-RD) in order to increase the genomic diagnostic rate in IBMFS.",[25,26,27],"Inherited BMF Syndrome","Inherited Platelet Disorder","Hematologic Diseases",[29,30,31,32],"bone marrow failure syndrome","whole genome sequencing","hematological diseases","pancytopenia","RECRUITING","2024-11-05",{"date":36,"type":37},"2024-11-07","ACTUAL",{"date":39,"type":37},"2022-03-18",{"date":41,"type":21},"2025-12",{"name":43,"class":44},"Peter MacCallum Cancer Centre, Australia","OTHER"]