AI Cure is a research tool showing open data. Not medical advice. Discuss with your doctor. Terms

โ† Trials
๐Ÿงช

Peripheral Blood KIT-D816V Mutation in Adult Systemic Mastocytosis

Recruitingn/aAges 18 Years - anyAllThe First Affiliated Hospital of Soochow Universiโ€ฆ
๐Ÿ’ฌ

In plain words

What the trial is, and whether it could suit you

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.

Sign in to get the eligibility rules as simple questions to take to your doctor.

๐Ÿ“‹ Eligibility rules (as published)
Inclusion Criteria: * Age \>= 18 years. * 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. * No prior treatment with KIT inhibitors or drugs affecting mast cell function (e.g., corticosteroids, interferon, immunosuppressants). * 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. Exclusion Criteria: * Patients from whom specimens cannot be obtained (e.g., due to comorbidities or coagulation abnormalities preventing sufficient peripheral blood collection or bone marrow biopsy). * 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. * Treatment with targeted KIT drugs (e.g., imatinib, avapritinib) within the last 3 months. * Systemic corticosteroid, interferon, or immunosuppressive therapy within the last 1 month. * Refusal to participate or inability to complete follow-up due to severe comorbidities or other personal reasons.
๐Ÿ’Š

What it tests

  • Not listed
๐Ÿ“

Where

1 site
The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology
Suzhou, China
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
๐Ÿ›ก๏ธ

AI Cure shows public evidence (Open Targets, ClinicalTrials.gov, PubMed, openFDA, DepMap, AlphaFold) with its source, and AI summaries that cite it โ€” not medical advice and not a cure. Treatment decisions belong with your doctor. Research ideas are shared only with approved researchers and labs, who can test them. In an emergency call your local emergency number (112 in India and Europe, 911 in the US). AI Cure Terms of Use ยท Privacy