Peripheral Blood KIT-D816V Mutation in Adult Systemic Mastocytosis

NCT07562542 | Recruiting

• 1 other identifier: SZ-SM02
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

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.

Conditions

Systemic Mastocytosis; KIT-D816V Mutation

Outcome Measures

Primary Outcomes (1)

• To assess the diagnostic efficacy of peripheral blood KIT-D816V mutation detection using ddPCR for Systemic Mastocytosis (SM).

  To evaluate the sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and Area Under the Curve (AUC) of ddPCR detection of the KIT-D816V mutation in peripheral blood for the diagnosis of SM, compared to bone marrow biopsy.

  At the time of diagnosis and initial bone marrow biopsy.

Study Arms (2)

Suspected Systemic Mastocytosis (SM) Patients

Adult patients with suspected systemic mastocytosis (SM). Matched peripheral blood and bone marrow samples will be collected from these patients for the detection and quantification of the KIT-D816V mutation via droplet digital PCR (ddPCR).

Non-SM Hematologic Disease Patients (Control)

Adult patients diagnosed with non-SM hematologic diseases, serving as the control cohort. Matched peripheral blood and bone marrow samples will be collected for comparative KIT-D816V mutation analysis.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study population consists of two main cohorts: adult patients presenting with symptoms indicative of suspected systemic mastocytosis (SM) who require diagnostic evaluation, and a control cohort of adult patients diagnosed with non-SM hematologic diseases. Participants will be recruited from the clinical setting during their standard care visits.

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.

Sponsors & Collaborators

• The First Affiliated Hospital of Soochow University: lead

Study Sites (1)

The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology

Suzhou, Jiangsu, 215000, China

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

This study involves the collection of matched peripheral blood and bone marrow samples from enrolled patients with suspected systemic mastocytosis (SM) as well as control subjects. Genomic DNA extracted from these biospecimens will be utilized specifically for the detection and quantification of the KIT-D816V mutation via droplet digital PCR (ddPCR). All DNA-containing samples will be processed, analyzed, and securely stored in a designated central laboratory with specialized molecular testing capabilities. Strict adherence to standardized operating procedures (SOPs) will be maintained to ensure the highest level of data accuracy, reproducibility, and consistency across all study cohorts.

MeSH Terms

Conditions

Mastocytosis, Systemic

Condition Hierarchy (Ancestors)

Mastocytosis; Neoplasms, Connective Tissue; Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Neoplasms; Mast Cell Activation Disorders; Immune System Diseases

Central Study Contacts

Suning Chen, Professor

CONTACT

+86-13814881746; chensuning@sina.com

Suning Chen Chen, Professor

CONTACT

+86-13814881746; chensuning@sina.com

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 26, 2026
• First Posted: May 1, 2026
• Study Start: May 19, 2025
• Primary Completion (Estimated): May 19, 2028
• Study Completion (Estimated): July 31, 2028
• Last Updated: May 1, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

CN (1)