Actively Recruiting
Peripheral Blood KIT-D816V Mutation in Adult Systemic Mastocytosis
Led by The First Affiliated Hospital of Soochow University · Updated on 2026-05-01
50
Participants Needed
1
Research Sites
167 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Peripheral Blood KIT-D816V Mutation in Adult Systemic Mastocytosis
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Age 18 years or older
- Experiencing recurrent idiopathic anaphylactic reactions (such as hypotension or syncope), symptoms related to mast cell activation syndrome (flushing, abdominal pain, diarrhea), urticaria pigmentosa, or histopathological mast cell aggregation
- No prior treatment with KIT inhibitors or medications affecting mast cell function like corticosteroids, interferon, or immunosuppressants
- Willing to undergo bone marrow examination and peripheral blood KIT-D816V testing
- Agree to biannual clinical follow-up for 6 months and sign informed consent
You will not qualify if you...
- Unable to provide specimens due to conditions like coagulation problems or other comorbidities
- Previous diagnosis of other clonal blood diseases such as leukemia or lymphoid cancers
- Treatment with targeted KIT drugs (e.g., imatinib, avapritinib) within the last 3 months
- Received systemic corticosteroids, interferon, or immunosuppressive therapy within the past month
- Unwilling or unable to participate or complete follow-up because of severe health issues or personal reasons
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology
Suzhou, Jiangsu, China, 215000
Actively Recruiting
Research Team
S
Suning Chen, Professor
CONTACT
S
Suning Chen Chen, Professor
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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