Peripheral Blood KIT-D816V Mutation in Adult Systemic Mastocytosis

Recruiting now

Conditions studied: Systemic Mastocytosis, KIT-D816V Mutation

In brief

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.

Key facts

Study ID

NCT07562542

Run by

The First Affiliated Hospital of Soochow University

People needed

50

Starts

2025-05-19

Expected to finish

2028-07-31

Last updated by the study team

2026-05-01

Who can join

Age: 18 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

• 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.

Where it is running

• The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology — Suzhou, Jiangsu, China (enrolling)

Full record on ClinicalTrials.gov

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