Status:
RECRUITING
Screening Study for KIT D816V Mutated Mast Cell Disease in Select Populations
Lead Sponsor:
Blueprint Medicines Corporation
Conditions:
Clonal Mast Cell Disease
KIT D816V Mutation
Eligibility:
All Genders
18+ years
Brief 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 Criteria
Inclusion
- Key
- 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:
- 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.
- Key
Exclusion
- Participants previously diagnosed with any of the following:
- Monoclonal mast cell activation syndrome with a known KIT mutation
- Cutaneous mastocytosis only (that is, no documentation of systemic mast cell disease via bone marrow biopsy)
- 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.
Key Trial Info
Start Date :
October 17 2025
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
October 31 2028
Estimated Enrollment :
450 Patients enrolled
Trial Details
Trial ID
NCT07143669
Start Date
October 17 2025
End Date
October 31 2028
Last Update
January 9 2026
Active Locations (8)
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1
AllerVie Clinical Research
Birmingham, Alabama, United States, 35209
2
Allergy & Asthma Clinical Research of the Bay Area
Walnut Creek, California, United States, 94598
3
Emory University
Atlanta, Georgia, United States, 30322
4
Midwest Allergy Sinus Asthma
Normal, Illinois, United States, 61761