Peripheral blood KIT-D816V testing in adults with systemic mastocytosis

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

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

Study contacts

• Study coordinator: Suning Chen, Professor
• Email: chensuning@sina.com
• Phone: +86-13814881746

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Italian Mastocytosis Registry

  This registry collects medical data from adults with systemic mastocytosis across 27 Italian centers to see how the disease progresses and how care varies over time.

  Recruiting at 10 sites Associazione Rete Italiana Mastocitosi · Como and 9 other locations · NCT07917156

• Screening for KIT D816V-mutated mast cell disease in selected groups

  This screening will test whether people with unexplained anaphylaxis, recurrent mast cell activation symptoms, or conditions like hypermobile EDS or POTS carry the KIT D816V mutation.

  Recruiting at 26 sites Blueprint Medicines Corporation · Birmingham, Alabama and 25 other locations · NCT07143669

• Tracking mastocytosis from childhood to adulthood

  This hospital registry will collect clinical, laboratory, and genetic information from children and adults with cutaneous or systemic mastocytosis seen in Pavia to see how the disease changes over time and what predicts outcomes.

  Recruiting Fondazione IRCCS Policlinico San Matteo di Pavia · Pavia, Pavia · NCT07142473

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.