NCT07562542 Peripheral Blood KIT-D816V Mutation in Adult Systemic Mastocytosis
| NCT ID | NCT07562542 |
| Status | Recruiting |
| Phase | — |
| Sponsor | The First Affiliated Hospital of Soochow University |
| Condition | Systemic Mastocytosis |
| Study Type | OBSERVATIONAL |
| Enrollment | 50 participants |
| Start Date | 2025-05-19 |
| Primary Completion | 2028-05-19 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 50 participants in total. It began in 2025-05-19 with a primary completion date of 2028-05-19.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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.
Eligibility Criteria
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.
Contact & Investigator
Frequently Asked Questions
Who can join the NCT07562542 clinical trial?
This trial is open to participants of all sexes, aged 18 Years or older, studying Systemic Mastocytosis. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT07562542 currently recruiting?
Yes, NCT07562542 is actively recruiting participants. Contact the research team at chensuning@sina.com for enrollment information.
Where is the NCT07562542 trial being conducted?
This trial is being conducted at Suzhou, China.
Who is sponsoring the NCT07562542 clinical trial?
NCT07562542 is sponsored by The First Affiliated Hospital of Soochow University. The trial plans to enroll 50 participants.