This is a multi-center screening study with the primary objective to determine the prevalence of KIT D816V mutation in peripheral blood in patients with evidence of systemic mast cell activation (MCA).
Study Type
OBSERVATIONAL
Enrollment
379
After providing informed consent, relevant medical history data, and blood and buccal swab samples will be collected at a single visit from patients presenting with systemic mast cell activation symptoms
Clinical Research Center of Alabama
Birmingham, Alabama, United States
Proportion of patients with KIT D816V mutation in peripheral blood
Time frame: Day 1
Mean KIT D816V mutated allele fraction in peripheral blood
Time frame: Day 1
Proportion of patients with increased tryptase Alpha/ Beta 1 (TPSAB1) alpha-tryptase gene copy number (GCN) in buccal mucosa
Time frame: Day 1
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