[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"systemic-mastocytosis\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:systemic-mastocytosis":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,40],{"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":4,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":28,"lastUpdatePostDateStruct":29,"startDateStruct":32,"completionDateStruct":34,"leadSponsor":36,"locationsCount":39},"100636196","peripheral-blood-kit-d816v-mutation-in-adult-systemic-mastocytosis-100636196",false,"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.","ALL","18 Years",{"count":20,"type":21},50,"ESTIMATED","OBSERVATIONAL","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.",[25,26],"Systemic Mastocytosis","KIT-D816V Mutation","RECRUITING","2026-04-26",{"date":30,"type":31},"2026-05-01","ACTUAL",{"date":33,"type":31},"2025-05-19",{"date":35,"type":21},"2028-07-31",{"name":37,"class":38},"The First Affiliated Hospital of Soochow University","OTHER",1,{"id":41,"slug":42,"hasResults":11,"nctId":43,"briefTitle":44,"officialTitle":44,"acronym":45,"eligibilityCriteria":46,"healthyVolunteers":11,"sex":17,"minAge":47,"maxAge":4,"enrollmentInfo":48,"targetDuration":50,"studyType":22,"phases":4,"briefSummary":51,"conditions":52,"keywords":4,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":54,"lastUpdatePostDateStruct":55,"startDateStruct":57,"completionDateStruct":59,"leadSponsor":61,"locationsCount":39},"100603896","mastocytosis-from-pediatric-age-to-adulthood-local-registry-of-cutaneous-and-systemic-mastocytosis-100603896","NCT07142473","Mastocytosis From Pediatric Age to Adulthood: Local Registry of Cutaneous and Systemic Mastocytosis","MaRe","Inclusion criteria:\n\n\\- Cutaneous or systemic mastocytosis diagnosys attending the Dermatology Outpatient Clinics of the UOC Dermatology Unit Fondazione IRCCS Policlinico San Matteo","6 Years",{"count":49,"type":21},600,"10 Years","Given the renewed focus on mastocytosis (recognized in Italy as a rare disease since 2018) and emerging clinical and immunogenetic knowledge, and considering the rarity of the disease and limited understanding of its progression, this observational study aims to analyze epidemiological, clinical, genetic, immunohistochemical, and laboratory characteristics of patients with mastocytosis. This will help expand knowledge about the disease and identify prognostic variables useful in developing a personalized therapeutic approach.\n\nThis registry aims to collect retrospective and prospective data on patients with cutaneous and systemic mastocytosis attending the Dermatology Unit at the IRCCS Fondazione Policlinico San Matteo.\n\nThis is a single-center longitudinal hospital registry including patients with cutaneous and systemic mastocytosis, collected retrospectively and prospectively to assess the clinical, serological, hematological, and molecular characteristics of patients with cutaneous and systemic mastocytosis and their correlation with specific outcomes such as disease variant (cutaneous or systemic), extent of skin involvement, and survival rate.",[53,25],"Cutaneous Mastocytosis","2025-08-22",{"date":56,"type":31},"2025-08-26",{"date":58,"type":31},"2024-01-26",{"date":60,"type":21},"2034-01-26",{"name":62,"class":38},"Fondazione IRCCS Policlinico San Matteo di Pavia"]