[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"gata2-gene-mutation\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:gata2-gene-mutation":27},{"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":17,"sex":18,"minAge":4,"maxAge":4,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":28,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":33,"lastUpdatePostDateStruct":34,"startDateStruct":37,"completionDateStruct":39,"leadSponsor":41,"locationsCount":44},"100514860","study-for-characterisation-of-predictive-parameters-of-clonal-evolution-in-subjects-with-gata2-germline-mutation-100514860",false,"NCT05983991","Study for Characterisation of Predictive Parameters of Clonal Evolution in Subjects With GATA2 Germline Mutation","GATA-2 Project: Retrospective and Prospective Exploratory Study for Characterisation of Predictive Parameters of Clonal Evolution in Subjects With GATA2 Germline Mutation","GATA-2","Inclusion Criteria:\n\n1. All subject, at any age, with a germline GATA2 mutation.\n2. Patient followed in the center within a standard of care procedure or clinical trial.\n3. Signed written informed consent. For minor patients: patient assent and legal guardian(s) written informed consent obtained before inclusion in the study and prior performance of any study-related procedure.\n4. For French patients: patient affiliated to a Social Health Insurance.\n\nExclusion Criteria:\n\n1. GATA2 somatic mutation.\n2. Any psychological, familial, geographic or social situation, according to the judgment of investigator, potentially preventing the provision of informed consent or compliance to study procedure.\n3. Person who has forfeited his\u002Fher freedom by administrative or legal award or who is under legal protection, with the exception of persons under curatorship who may be included in the study.",true,"ALL",{"count":20,"type":21},150,"ESTIMATED","INTERVENTIONAL",[24],"NA","This trial is a translational, open-label, multi-site, retrospective and prospective cohort study of 250 patients aiming to characterize predictive parameters of clonal evolution in a population of subjects carrying the germline GATA2 mutation.\n\nThis study will be conducted on a population of subjects either with previous germline GATA2 mutation identified or newly identified for germline GATA2 mutation in the context of routine care.\n\nProspective cohort:\n\n150 subjects will be included in this interventional prospective cohort study:\n\n* Alive subjects previously identified with a germline GATA2 mutation through the already existing \"Neutropenia database\";\n* Subject identified in the investigating centers in the context of a newly identified germline GATA2 mutation.\n\nFor each included patient, biological samples (blood and bone marrow samples) will be collected at baseline visit and then during 5 years, according to the samples taken in the standard practice. No additional sampling will be performed for the study.\n\nRetrospective cohort:\n\nSubjects (100 cases in total) previously identified with germline GATA2 mutation through the already existing \"Neutropenia database\" and with the following features may enter the retrospective cohort:\n\n* Deceased patients,\n* Lost to follow-up patients. Clinical follow-up data will be obtained from this database and\u002For patient's medical report.\n\nFor each retrospective case, archived blood and bone marrow samples (collected in a sanitary setting) will be sent to sponsor's centralized unit for analysis.",[27],"GATA2 Gene Mutation",[27,29,30,31],"Myelodysplastic Syndromes","Acute myeloid Leukemia","Spectrum 2","RECRUITING","2025-12-19",{"date":35,"type":36},"2025-12-26","ACTUAL",{"date":38,"type":36},"2023-12-07",{"date":40,"type":21},"2033-12",{"name":42,"class":43},"Institut Claudius Regaud","OTHER",23]