Screening Adults With Suspected Clonal Mast Cell Disease for KIT D816V
Screens adults with suspected clonal mast cell disease to check for the KIT D816V mutation.
Plain-language title generated from the registry record
Registry title: Screening Study for KIT D816V Mutated Mast Cell Disease in Select Populations
Key facts
- Where
- Atlanta, Birmingham, Chapel Hill, Charleston, Dallas, Evanston, Glenn Dale, Kansas City, La Jolla, Lincoln, New Orleans, New York, Normal, Oklahoma City, Omaha, Pittsburgh, Rochester, San Diego, Scottsdale, St Louis, Tampa, Tucson, Walnut Creek, and Warwick, United StatesSee the 25 sites
Where in United States
- Emory UniversityAtlanta, United StatesTaking people
- AllerVie Clinical ResearchBirmingham, United StatesTaking people
- O'Neal Comprehensive Cancer Center at the UABBirmingham, United StatesTaking people
- The University of North Carolina at Chapel HillChapel Hill, United StatesTaking people
- Medical University of South CarolinaCharleston, United StatesTaking people
- AIR CareDallas, United StatesTaking people
- Northwestern Medicine Allergy and ImmunologyEvanston, United StatesTaking people
- AllerVie HealthGlenn Dale, United StatesTaking people
- University of Kansas Medical CenterKansas City, United StatesTaking people
- Orso HealthLa Jolla, United StatesTaking people
- Somnos Clinical ResearchLincoln, United StatesTaking people
- Tulane University School of MedicineNew Orleans, United StatesTaking people
- Mount Sinai HospitalNew York, United StatesTaking people
- Midwest Allergy Sinus AsthmaNormal, United StatesTaking people
- Allergy, Asthma & Clinical Research CenterOklahoma City, United StatesTaking people
- University of NebraskaOmaha, United StatesTaking people
- Allergy & Clinical Immunology AssociatesPittsburgh, United StatesTaking people
- Mayo Clinic - RochesterRochester, United StatesTaking people
- Kaiser Permanente - San DiegoSan Diego, United StatesTaking people
- Orso HealthScottsdale, United StatesTaking people
- Barnes-Jewish West County HospitalSt Louis, United StatesTaking people
- Allergy, Asthma, & Immunology Associates of Tampa BayTampa, United StatesTaking people
- Arizona Respiratory CenterTucson, United StatesTaking people
- Allergy & Asthma Clinical Research of the Bay AreaWalnut Creek, United StatesTaking people
- Care Access ResearchWarwick, United StatesTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Blueprint Medicines Corporation
- Trial code
- NCT07143669
- Record updated
- 7 October 2026
- Original description
This is a multicenter screening study to characterize the prevalence of the KIT D816V mutation in participants with suspected clonal mast cell disease.Read full original descriptionShow less
A Multicenter Screening Study to Characterize the Prevalence of the KIT D816V Mutation in Patients With Suspected Clonal Mast Cell Disease
This is a multicenter screening study to characterize the prevalence of the KIT D816V mutation in participants with suspected clonal mast cell disease.
Inclusion: Cohort 1 participants must meet inclusion criteria for either SMAC-A or SMAC-B:; SMAC-A; Documented anaphylaxis due to Hymenoptera venom with cardiovascular symptoms or; History of at least one event of anaphylaxis as determined by the Investigator's clinical assessment and judgment based on available medical history, clinical presentation, and supporting documentation without a clearly identifiable trigger(s) or allergen(s) (otherwise idiopathic anaphylaxis) OR; SMAC-AGS: History of anaphylaxis after eating mammalian meat (e.g. pork, beef) AND history of elevated alpha-gal (galactose-alpha 1, 3 galactose) serum IgE as determined by the Investigator's clinical assessment and supporting medical history documentation 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 cardiovascular; Any clinical response on one or more optimally dosed therapies intended to mitigate mast cell mediators, as determined by the Investigator; Cohort 2 participants must have confirmed, known diagnosis of 1 of the following criteria:; Either hypermobile Ehlers-Danlos syndrome or documented history of hypermobility spectrum disorder; Postural orthostatic tachycardia syndrome with one or more systemic symptoms; Early onset (≤50 years old) osteoporosis or osteopenia; Cohort 3 participants must have documented diagnosis of 1 of the following, according to World Health Organization 5th edition criteria: chronic myelomonocytic leukemia or myelodysplastic syndrome/myeloproliferative neoplasm not otherwise specified; Cohort 4 participants must have documented diagnosis of Mastocytosis in the Skin (MIS) with previously undetected KIT D816V mutation in peripheral blood (PB) or bone marrow (BM) OR Diagnosed cutaneous mastocytosis or physical examination findings indicative of "cutaneous mastocytosis".
Exclusion: Participants previously diagnosed with any of the following:; Monoclonal mast cell activation syndrome with a known KIT mutation; Any subtype of systemic mastocytosis; Mast cell sarcoma; Cohort 2 only: Osteopenia or osteoporosis attributed to known genetic, endocrine, nutritional, or other medical conditions; Note: Additional protocol-defined criteria apply.