[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"germline-mutation\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:germline-mutation":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,49],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":28,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":37,"lastUpdatePostDateStruct":38,"startDateStruct":41,"completionDateStruct":43,"leadSponsor":45,"locationsCount":48},"100594416","study-of-individuals-and-families-with-aberrations-in-ddx41-or-similar-cancer-predisposition-variants-100594416",false,"NCT07019155","Study of Individuals and Families With Aberrations in DDX41 or Similar Cancer Predisposition Variants","Longitudinal Study of Individuals and Families With Aberrations in DDX41 or Similar Cancer Predisposition Variants","* INCLUSION CRITERIA:\n* Age \\> 1 month old.\n* Participants with history of aberrations that affect the DDX41 gene, DDX41 RNA, or DDX41 protein (Cohorts 1-2)\n\nOR\n\nParticipants with history of aberrations in another HHM variant (Cohort 3)\n\nOR\n\nParticipants with history of absence of HHM variants, who have first or second degree relative with history of confirmed or suspected HHM variant(s) per participant report (Cohort 4).\n\n* Participants must have an identified healthcare provider outside of NIH who manages participant care, and any diagnostic clinical findings provided by this study.\n* Ability of participant or parent\u002Fguardian to understand and the willingness to sign a written consent document.\n\nEXCLUSION CRITERIA:\n\nNone.","ALL","1 Month","120 Years",{"count":20,"type":21},510,"ESTIMATED","OBSERVATIONAL","Background:\n\nHereditary hematopoietic malignancy (HHM) syndromes are a group of inherited disorders that raises the risk of blood cancers. Many people with HHMs have changes in a gene (DDX41) that makes it more likely that they will develop myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), or other cancers. This natural history study will explore the link between HHM syndromes and these diseases.\n\nObjective:\n\nTo study the link between HHM and MDS\u002FAML.\n\nEligibility:\n\nPeople aged 1 month and older with HHM. Relatives with HHM are also needed.\n\nDesign:\n\nParticipants aged 3 years and older will have 1 initial clinic visit with the option to follow-up annually. They will undergo these procedures:\n\nThey will have a physical exam with blood and urine tests.\n\nThey may give samples of saliva, stool, nails, and skin.\n\nTheir ability to do normal activities will be reviewed.\n\nSome may have a bone marrow biopsy: A tissue sample will be drawn from inside a bone.\n\nThey may answer questions about their health and family medical history.\n\nParticipants younger than 3 years, and those who cannot come to the clinic, will be contacted by phone or email. Their samples may be collected locally and sent to researchers.\n\nFor participants who have changes in their DDX41 gene: Researchers will contact them or their primary care provider once a year for 10 years. Researchers will check on participants health and collect any new test results. Some may be asked to send new samples.\n\nParticipants who do not have changes in their DDX41 gene may be contacted yearly, or less often, for 10 years.\n\nSome participants may be asked to return to the clinic if needed.",[25,26,27],"Germline Mutation","Myelodysplastic Syndromes","Acute Myeloid Leukemia",[29,30,31,32,33,34,35],"DEAD-box helicase 41 (DDX41)","germline mutations","MDS","AML","Germline Predisposition Syndromes","Hereditary Hematopoietic Malignancy","Cancer Predisposition","RECRUITING","2026-04-29",{"date":39,"type":40},"2026-04-30","ACTUAL",{"date":42,"type":40},"2025-07-24",{"date":44,"type":21},"2035-06-15",{"name":46,"class":47},"National Cancer Institute (NCI)","NIH",1,{"id":50,"slug":51,"hasResults":11,"nctId":52,"briefTitle":53,"officialTitle":53,"acronym":4,"eligibilityCriteria":54,"healthyVolunteers":11,"sex":16,"minAge":55,"maxAge":4,"enrollmentInfo":56,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":58,"conditions":59,"keywords":4,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":61,"lastUpdatePostDateStruct":62,"startDateStruct":64,"completionDateStruct":66,"leadSponsor":68,"locationsCount":48},"100608656","unveiling-the-germline-predisposition-to-myeloproliferative-neoplasms-100608656","NCT07204392","Unveiling the Germline Predisposition to Myeloproliferative Neoplasms","Inclusion Criteria:\n\n* A diagnosis of PV, ET, prePMF, overt PMF or MPN-U according to 2016 WHO criteria\n* Characterization of the MPN driver mutation performed at any moment before enrolment\n* diagnosis of MPN made when the patient was younger than 27 years old OR at least a second case of hematologic malignancies in first or second-degree relatives\n\nExclusion Criteria:\n\n* None","18 Years",{"count":57,"type":21},313,"The classic Ph-negative myeloproliferative neoplasms (MPN) are a group of clonal hematopoietic disorders caused by a dysregulated JAK\u002FSTAT signal transduction because of acquired somatic mutations of JAK2, CALR or MPL genes. They are sporadic diseases but there are several lines of evidence that support the role of germline factors in the pathogenesis of MPN: the existence of familial clustering, the presence of more than one clone in some patients, the known existence of common polymorphisms that cause predisposition to MPN.\n\nIn this study, we would like to define the germline predisposition to MPN.",[60,25],"Myeloproliferative Disease","2025-09-24",{"date":63,"type":40},"2025-10-02",{"date":65,"type":40},"2022-06-27",{"date":67,"type":21},"2030-12-31",{"name":69,"class":70},"Fondazione IRCCS Policlinico San Matteo di Pavia","OTHER"]