A Multicenter Screening Study to Characterize the Prevalence of the KIT D816V Mutation in Patients With Suspected Clonal Mast Cell Disease
Blueprint Medicines Corporation
Summary
This is a multicenter screening study to characterize the prevalence of the KIT D816V mutation in participants with suspected clonal mast cell disease.
Eligibility
- Age range
- 18+ years
- Sex
- All
- Healthy volunteers
- No
Key Inclusion Criteria: * Cohort 1 participants must meet inclusion criteria for either SMAC-A or SMAC-B: 1\. SMAC-A * Documented anaphylaxis due to Hymenoptera venom with cardiovascular symptoms or * Documented anaphylaxis without known trigger(s) or allergen(s) warranting hospitalization, emergency room visit, and/or epinephrine with cardiovascular symptoms 2. SMAC-B * Episodic or recurrent signs and symptoms consistent with mast cell activation without known triggers or allergens in at least 2 of the following organ systems: skin, respiratory/naso-ocular, gastrointestinal tract, or card…
Interventions
- OtherScreening
After providing informed consent and relevant medical history data, samples will be collected from participants with suspected clonal mast cell disease.
Locations (17)
- AllerVie Clinical ResearchBirmingham, Alabama
- O'Neal Comprehensive Cancer Center at the UABBirmingham, Alabama
- Kaiser Permanente San DiegoSan Diego, California
- Allergy & Asthma Clinical Research of the Bay AreaWalnut Creek, California
- Allergy, Asthma, & Immunology Associates of Tampa BayTampa, Florida
- Emory UniversityAtlanta, Georgia