Peripheral Blood KIT-D816V Mutation in Adult Systemic Mastocytosis
Recruiting
Observational Study
Systemic Mastocytosis
KIT-D816V Mutation
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 18 and older
- Sex
- Any
- Study type
- Observational
- Participants needed
- 50 (estimated)
- Sponsor
- The First Affiliated Hospital of Soochow University · Other
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About This Trial
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…
Trial Locations
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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 aggregatio…
Contacts