Peripheral blood KIT-D816V testing in adults with systemic mastocytosis

Study on the Diagnostic Value of Peripheral Blood KIT-D816V Mutation Detection in Adult Systemic Mastocytosis

This will test whether a sensitive blood test (ddPCR) can find the KIT-D816V mutation in adults with systemic mastocytosis so they might avoid a bone marrow biopsy.

Quick facts

• Study type: Observational
• Enrollment: 50 (estimated)
• Ages: 18 Years and up
• Sex: All
• Sponsor: The First Affiliated Hospital of Soochow University (Academic / other)
• Drugs / interventions: imatinib, avapritinib
• Locations: 1 site (Suzhou, Jiangsu)
• Trial ID: NCT07562542 on ClinicalTrials.gov

What this trial studies

This observational study uses droplet digital PCR (ddPCR) to detect and quantify the KIT-D816V mutation in peripheral blood from adults with systemic mastocytosis. Researchers will compare peripheral blood ddPCR results with matched bone marrow biopsy findings and correlate mutant allele burden with clinical symptom severity and disease subtypes. The primary aim is to measure the sensitivity, specificity, and overall diagnostic accuracy of peripheral blood ddPCR versus the gold-standard bone marrow evaluation. Secondary aims include exploring whether changes in blood mutational burden can serve as a dynamic biomarker for monitoring disease progression and treatment response.

Who should consider this trial

Good fit: Adults (age ≥18) with suspected or confirmed systemic mastocytosis who can provide peripheral blood and undergo bone marrow biopsy and biannual clinical follow-up.

Not a fit: Patients unable to provide adequate blood or bone marrow samples, those with other clonal hematologic diseases, or those previously treated with KIT inhibitors may not benefit from the study's findings.

Why it matters

Potential benefit: If successful, this could allow many adults with systemic mastocytosis to be diagnosed and monitored with a simple blood test instead of invasive bone marrow biopsies.

How similar studies have performed: Prior smaller studies and case reports have shown that very sensitive molecular methods can detect KIT-D816V in blood, but systematic validation against bone marrow in larger cohorts is still limited.

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.

Where this trial is running

Suzhou, Jiangsu

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

Study contacts

• Study coordinator: Suning Chen, Professor

Conditions Systemic Mastocytosis; KIT-D816V Mutation