An observational study in Systemic Mastocytosis and KIT-D816V Mutation, sponsored by The First Affiliated Hospital of Soochow University. Recruiting at 1 site in China. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-05-01.
Sponsored by The First Affiliated Hospital of Soochow University · Observational
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.
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.
56 studies on the registry are indexed under Mastocytosis, Systemic; 16 are open to participants now.
This study's planned enrollment of 50 is below the median of 155 across 18 observational studies indexed under Mastocytosis, Systemic.
Browse Mastocytosis, Systemic studies →The First Affiliated Hospital of Soochow University is the lead sponsor of 263 studies on the registry; 150 are open to participants now.
Counted across the registry records on this site, refreshed daily.
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.
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Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
A weakened immune system. It can come from an illness, such as HIV or some blood cancers, or from medicines that turn the immune system down, for example after an organ transplant or for an autoimmune disease; steroids at higher doses count.
Read whether the line is about a condition or about medicines, and which medicines and doses it means.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.
Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.
Corticosteroids (steroids)
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Immunosuppression
A weakened immune system. It can come from an illness, such as HIV or some blood cancers, or from medicines that turn the immune system down, for example after an organ transplant or for an autoimmune disease; steroids at higher doses count.
Read whether the line is about a condition or about medicines, and which medicines and doses it means.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Biopsy and archival tissue
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Cancer (malignancy)
Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.
Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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).
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.
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.
Time frame: At the time of diagnosis and initial bone marrow biopsy.
Plan to share: No
No publications or documents are linked to this record.
Started May 2025 (actual). Primary completion is estimated for May 2028, 36 months after the start.
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