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Screening Study for KIT D816V Mutated Mast Cell Disease in Select Populations

NCT07143669 · Blueprint Medicines Corporation
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Official title
A Multicenter Screening Study to Characterize the Prevalence of the KIT D816V Mutation in Patients With Suspected Clonal Mast Cell Disease
About this study
This is a multicenter screening study to characterize the prevalence of the KIT D816V mutation in participants with suspected clonal mast cell disease.
Eligibility criteria
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 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: 1. Either hypermobile Ehlers-Danlos syndrome or documented history of hypermobility spectrum disorder. 2. Postural orthostatic tachycardia syndrome with one or more systemic symptoms. 3. 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. Key Exclusion Criteria: * Participants previously diagnosed with any of the following: 1. Monoclonal mast cell activation syndrome with a known KIT mutation 2. Cutaneous mastocytosis only (that is, no documentation of systemic mast cell disease via bone marrow biopsy) 3. Any subtype of systemic mastocytosis 4. 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.
Study design
Enrollment target: 450 participants
Age groups: adult, older_adult
Timeline
Starts: 2025-10-17
Estimated completion: 2028-10-31
Last updated: 2026-03-31
Interventions
Other: Screening
Primary outcomes
  • Proportion of Participants in Cohort 1 with KIT D816V Mutation in Peripheral Blood as Measured by Digital Droplet Polymerase Chain Reaction (ddPCR) (Day 1)
  • Proportion of Participants in Cohort 1 with KIT D816V Mutation in Peripheral Blood as Measured by Ultra-sensitive KIT D816V by Rolling Circle Amplification (RCA) Assay (Day 1)
Sponsor
Blueprint Medicines Corporation · industry
Contacts & investigators
ContactBlueprint Medicines · contact · medinfo@blueprintmedicines.com · +1-888-258-7768
ContactBlueprint Medicines, EU Contact · contact · medinfoeurope@blueprintmedicines.com · +31 85 064 4001
All locations (16)
AllerVie Clinical ResearchRecruiting
Birmingham, Alabama, United States
O'Neal Comprehensive Cancer Center at the UABRecruiting
Birmingham, Alabama, United States
Kaiser Permanente San DiegoRecruiting
San Diego, California, United States
Allergy & Asthma Clinical Research of the Bay AreaRecruiting
Walnut Creek, California, United States
Allergy, Asthma, & Immunology Associates of Tampa BayRecruiting
Tampa, Florida, United States
Emory UniversityRecruiting
Atlanta, Georgia, United States
Midwest Allergy Sinus AsthmaRecruiting
Normal, Illinois, United States
AllerVie HealthRecruiting
Glenn Dale, Maryland, United States
Barnes-Jewish West County HospitalRecruiting
St Louis, Missouri, United States
Somnos Clinical ResearchRecruiting
Lincoln, Nebraska, United States
Mount Sinai HospitalRecruiting
New York, New York, United States
The University of North Carolina at Chapel HillRecruiting
Chapel Hill, North Carolina, United States
Allergy, Asthma & Clinical Research CenterRecruiting
Oklahoma City, Oklahoma, United States
Allergy & Clinical Immunology AssociatesRecruiting
Pittsburgh, Pennsylvania, United States
Care Access ResearchRecruiting
Warwick, Rhode Island, United States
AIR CareRecruiting
Dallas, Texas, United States