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Peripheral Blood KIT-D816V Mutation in Adult Systemic Mastocytosis (PB-KIT in SM)

26. april 2026 oppdatert av: The First Affiliated Hospital of Soochow University

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

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.

Studieoversikt

Status

Rekruttering

Forhold

Detaljert beskrivelse

Systemic mastocytosis (SM) is a rare hematologic neoplasm characterized by the abnormal clonal proliferation and accumulation of mast cells in various organs, most notably the bone marrow. The somatic KIT-D816V mutation is identified in over 90% of adult patients with SM and serves as a major World Health Organization (WHO) diagnostic criterion.

Traditionally, detecting this mutation and definitively diagnosing SM requires a bone marrow aspiration and biopsy, which are invasive, painful, and carry procedural risks. While peripheral blood allele burdens are generally lower than those in the bone marrow, the advent of ultra-sensitive molecular techniques, such as droplet digital PCR (ddPCR), has opened new avenues for non-invasive testing.

This study (ID: SZ-SM02) is designed to systematically investigate the efficacy of detecting the peripheral blood KIT-D816V mutation in adult SM patients. By utilizing ddPCR, we will quantify the mutant allele burden in peripheral blood samples and correlate these findings with matched bone marrow biopsy results, clinical symptom severity, and disease subtypes. The primary objective is to assess the sensitivity, specificity, and overall diagnostic accuracy of peripheral blood ddPCR compared to the gold-standard bone marrow evaluation. Secondary objectives include evaluating the feasibility of using peripheral blood mutational burden as a dynamic biomarker for monitoring disease progression and treatment response. Ultimately, this study seeks to validate a less invasive diagnostic pathway that reduces the burden on patients while maintaining high diagnostic precision.

Studietype

Observasjonsmessig

Registrering (Antatt)

50

Kontakter og plasseringer

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Studiekontakt

Studer Kontakt Backup

Studiesteder

  • Kina
    • Jiangsu
      • Suzhou, Jiangsu, Kina, 215000
        • Rekruttering
        • The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology
        • Ta kontakt med:

Deltakelseskriterier

Forskere ser etter personer som passer til en bestemt beskrivelse, kalt kvalifikasjonskriterier. Noen eksempler på disse kriteriene er en persons generelle helsetilstand eller tidligere behandlinger.

Kvalifikasjonskriterier

Alder som er kvalifisert for studier

  • Voksen
  • Eldre voksen

Tar imot friske frivillige

Nei

Prøvetakingsmetode

Ikke-sannsynlighetsprøve

Studiepopulasjon

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.

Beskrivelse

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.

Studieplan

Denne delen gir detaljer om studieplanen, inkludert hvordan studien er utformet og hva studien måler.

Hvordan er studiet utformet?

Designdetaljer

Kohorter og intervensjoner

Gruppe / Kohort
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.

Hva måler studien?

Primære resultatmål

Resultatmål
Tiltaksbeskrivelse
Tidsramme
To assess the diagnostic efficacy of peripheral blood KIT-D816V mutation detection using ddPCR for Systemic Mastocytosis (SM).
Tidsramme: At the time of diagnosis and initial bone marrow biopsy.
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.

Samarbeidspartnere og etterforskere

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Sponsor

The First Affiliated Hospital of Soochow University

Studierekorddatoer

Disse datoene sporer fremdriften for innsending av studieposter og sammendragsresultater til ClinicalTrials.gov. Studieposter og rapporterte resultater gjennomgås av National Library of Medicine (NLM) for å sikre at de oppfyller spesifikke kvalitetskontrollstandarder før de legges ut på det offentlige nettstedet.

Studer hoveddatoer

Studiestart (Faktiske)

19. mai 2025

Primær fullføring (Antatt)

19. mai 2028

Studiet fullført (Antatt)

31. juli 2028

Datoer for studieregistrering

Først innsendt

26. april 2026

Først innsendt som oppfylte QC-kriteriene

26. april 2026

Først lagt ut (Faktiske)

1. mai 2026

Oppdateringer av studieposter

Sist oppdatering lagt ut (Faktiske)

1. mai 2026

Siste oppdatering sendt inn som oppfylte QC-kriteriene

26. april 2026

Sist bekreftet

1. april 2026

Mer informasjon

Begreper knyttet til denne studien

Ytterligere relevante MeSH-vilkår

Andre studie-ID-numre

  • SZ-SM02

Plan for individuelle deltakerdata (IPD)

Planlegger du å dele individuelle deltakerdata (IPD)?

NEI

Legemiddel- og utstyrsinformasjon, studiedokumenter

Studerer et amerikansk FDA-regulert medikamentprodukt

Nei

Studerer et amerikansk FDA-regulert enhetsprodukt

Nei

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