Actively Recruiting
Screening Study for KIT D816V Mutated Mast Cell Disease in Select Populations
Led by Blueprint Medicines Corporation · Updated on 2026-04-20
450
Participants Needed
17
Research Sites
158 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
This is a multicenter screening study to characterize the prevalence of the KIT D816V mutation in participants with suspected clonal mast cell disease.
CONDITIONS
Official Title
Screening Study for KIT D816V Mutated Mast Cell Disease in Select Populations
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participants aged 18 years or older
- For Cohort 1 (SMAC-A): documented anaphylaxis due to Hymenoptera venom with cardiovascular symptoms or anaphylaxis without known triggers requiring hospitalization, emergency care, or epinephrine with cardiovascular symptoms
- For Cohort 1 (SMAC-B): episodic or recurrent mast cell activation symptoms in at least two organ systems (skin, respiratory/naso-ocular, gastrointestinal, cardiovascular) without known triggers
- Clinical response to one or more therapies targeting mast cell mediators as determined by the Investigator
- Cohort 2: confirmed diagnosis of hypermobile Ehlers-Danlos syndrome or hypermobility spectrum disorder, or postural orthostatic tachycardia syndrome with systemic symptoms, or early onset (≤50 years) osteoporosis or osteopenia
- Cohort 3: documented diagnosis of chronic myelomonocytic leukemia or myelodysplastic syndrome/myeloproliferative neoplasm not otherwise specified according to WHO 5th edition criteria
You will not qualify if you...
- Previous diagnosis of monoclonal mast cell activation syndrome with a known KIT mutation
- Diagnosis of cutaneous mastocytosis only without systemic mast cell disease confirmation via bone marrow biopsy
- Any subtype of systemic mastocytosis
- Diagnosis of mast cell sarcoma
- For Cohort 2 only: osteopenia or osteoporosis caused by known genetic, endocrine, nutritional, or other medical conditions
- Other additional protocol-defined criteria may apply
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 17 locations
1
AllerVie Clinical Research
Birmingham, Alabama, United States, 35209
Actively Recruiting
2
O'Neal Comprehensive Cancer Center at the UAB
Birmingham, Alabama, United States, 35294
Actively Recruiting
3
Kaiser Permanente San Diego
San Diego, California, United States, 92123
Actively Recruiting
4
Allergy & Asthma Clinical Research of the Bay Area
Walnut Creek, California, United States, 94598
Actively Recruiting
5
Allergy, Asthma, & Immunology Associates of Tampa Bay
Tampa, Florida, United States, 33613
Actively Recruiting
6
Emory University
Atlanta, Georgia, United States, 30322
Actively Recruiting
7
Midwest Allergy Sinus Asthma
Normal, Illinois, United States, 61761
Actively Recruiting
8
Tulane University School of Medicine
New Orleans, Louisiana, United States, 70112
Actively Recruiting
9
AllerVie Health
Glenn Dale, Maryland, United States, 20769
Actively Recruiting
10
Barnes-Jewish West County Hospital
St Louis, Missouri, United States, 63141
Actively Recruiting
11
Somnos Clinical Research
Lincoln, Nebraska, United States, 68510
Actively Recruiting
12
Mount Sinai Hospital
New York, New York, United States, 10029
Actively Recruiting
13
The University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, United States, 27599
Actively Recruiting
14
Allergy, Asthma & Clinical Research Center
Oklahoma City, Oklahoma, United States, 73120
Actively Recruiting
15
Allergy & Clinical Immunology Associates
Pittsburgh, Pennsylvania, United States, 15241
Actively Recruiting
16
Care Access Research
Warwick, Rhode Island, United States, 02886
Actively Recruiting
17
AIR Care
Dallas, Texas, United States, 75231
Actively Recruiting
Research Team
B
Blueprint Medicines
CONTACT
B
Blueprint Medicines, EU Contact
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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