[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"kit-d816v-mutation\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:kit-d816v-mutation":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,47],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":27,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":35,"lastUpdatePostDateStruct":36,"startDateStruct":39,"completionDateStruct":41,"leadSponsor":43,"locationsCount":46},"100603988","screening-study-for-kit-d816v-mutated-mast-cell-disease-in-select-populations-100603988",false,"NCT07143669","Screening Study for KIT D816V Mutated Mast Cell Disease in Select Populations","A Multicenter Screening Study to Characterize the Prevalence of the KIT D816V Mutation in Patients With Suspected Clonal Mast Cell Disease","Key Inclusion Criteria:\n\n* Cohort 1 participants must meet inclusion criteria for either SMAC-A or SMAC-B:\n\n  1\\. SMAC-A\n* Documented anaphylaxis due to Hymenoptera venom with cardiovascular symptoms or\n* Documented anaphylaxis without known trigger(s) or allergen(s) warranting hospitalization, emergency room visit, and\u002For epinephrine with cardiovascular symptoms 2. SMAC-B\n* Episodic or recurrent signs and symptoms consistent with mast cell activation without known triggers or allergens in at least 2 of the following organ systems: skin, respiratory\u002Fnaso-ocular, gastrointestinal tract, or cardiovascular.\n* Any clinical response on one or more optimally dosed therapies intended to mitigate mast cell mediators, as determined by the Investigator.\n* Cohort 2 participants must have confirmed, known diagnosis of 1 of the following criteria:\n\n  1. Either hypermobile Ehlers-Danlos syndrome or documented history of hypermobility spectrum disorder.\n  2. Postural orthostatic tachycardia syndrome with one or more systemic symptoms.\n  3. Early onset (≤50 years old) osteoporosis or osteopenia.\n* Cohort 3 participants must have documented diagnosis of 1 of the following, according to World Health Organization 5th edition criteria: chronic myelomonocytic leukemia or myelodysplastic syndrome\u002Fmyeloproliferative neoplasm not otherwise specified.\n\nKey Exclusion Criteria:\n\n* Participants previously diagnosed with any of the following:\n\n  1. Monoclonal mast cell activation syndrome with a known KIT mutation\n  2. Cutaneous mastocytosis only (that is, no documentation of systemic mast cell disease via bone marrow biopsy)\n  3. Any subtype of systemic mastocytosis\n  4. Mast cell sarcoma\n* Cohort 2 only: Osteopenia or osteoporosis attributed to known genetic, endocrine, nutritional, or other medical conditions.\n\nNote: Additional protocol-defined criteria apply.","ALL","18 Years",{"count":19,"type":20},450,"ESTIMATED","OBSERVATIONAL","This is a multicenter screening study to characterize the prevalence of the KIT D816V mutation in participants with suspected clonal mast cell disease.",[24,25,26],"Clonal Mast Cell Disease","KIT D816V Mutation","Suspected KITD816V Mutated Clonal Mast Cell Disease",[28,29,30,31,32,33],"Mast Cell Activation Disorder","MDS\u002FMPN Overlap Syndrome","Chronic Myelomonocytic Leukemia","Hypermobility Syndrome Disorder","Postural Orthostatic Tachycardia Syndrome","Early Onset Osteoporosis","RECRUITING","2026-06-23",{"date":37,"type":38},"2026-06-25","ACTUAL",{"date":40,"type":38},"2025-10-17",{"date":42,"type":20},"2028-10-31",{"name":44,"class":45},"Blueprint Medicines Corporation","INDUSTRY",19,{"id":48,"slug":49,"hasResults":11,"nctId":50,"briefTitle":51,"officialTitle":52,"acronym":53,"eligibilityCriteria":54,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":55,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":57,"conditions":58,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":61,"lastUpdatePostDateStruct":62,"startDateStruct":64,"completionDateStruct":66,"leadSponsor":68,"locationsCount":71},"100636196","peripheral-blood-kit-d816v-mutation-in-adult-systemic-mastocytosis-100636196","NCT07562542","Peripheral Blood KIT-D816V Mutation in Adult Systemic Mastocytosis","Study on the Diagnostic Value of Peripheral Blood KIT-D816V Mutation Detection in Adult Systemic Mastocytosis","PB-KIT in SM","Inclusion Criteria:\n\n* Age \\>= 18 years.\n* Presenting with recurrent idiopathic anaphylactic reactions (e.g., hypotension, syncope), mast cell activation syndrome (MCAS)-related symptoms (flushing, abdominal pain, diarrhea), urticaria pigmentosa, or histopathological findings of mast cell aggregation.\n* No prior treatment with KIT inhibitors or drugs affecting mast cell function (e.g., corticosteroids, interferon, immunosuppressants).\n* Willingness to undergo bone marrow examination and peripheral blood KIT-D816V testing, consent to biannual clinical follow-up for 6 months, and signing of the informed consent form.\n\nExclusion Criteria:\n\n* Patients from whom specimens cannot be obtained (e.g., due to comorbidities or coagulation abnormalities preventing sufficient peripheral blood collection or bone marrow biopsy).\n* Prior diagnosis of other clonal hematologic diseases (e.g., other types of leukemia or lymphoid malignancies) that could interfere with the specificity of the KIT-D816V mutation assessment.\n* Treatment with targeted KIT drugs (e.g., imatinib, avapritinib) within the last 3 months.\n* Systemic corticosteroid, interferon, or immunosuppressive therapy within the last 1 month.\n* Refusal to participate or inability to complete follow-up due to severe comorbidities or other personal reasons.",{"count":56,"type":20},50,"This observational study aims to evaluate the diagnostic value and clinical utility of detecting the KIT-D816V mutation in the peripheral blood of adult patients with systemic mastocytosis (SM), using droplet digital PCR (ddPCR). Currently, the diagnosis of SM relies heavily on invasive bone marrow biopsies. This study will determine whether highly sensitive ddPCR testing of peripheral blood could provide a reliable, minimally invasive alternative for detecting the KIT-D816V mutation, which is a key driver of the disease and a major diagnostic criterion. The results could optimize the diagnostic process and continuous monitoring of adult SM patients.",[59,60],"Systemic Mastocytosis","KIT-D816V Mutation","2026-04-26",{"date":63,"type":38},"2026-05-01",{"date":65,"type":38},"2025-05-19",{"date":67,"type":20},"2028-07-31",{"name":69,"class":70},"The First Affiliated Hospital of Soochow University","OTHER",1]