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NCT07143669Recruiting

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

Blueprint Medicines Corporation

Start Date

10/17/2025

Completion Date

10/31/2028

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

Age Range: 18 years to No maximum

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.

Interventions

OTHER

Screening

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Conditions

Clonal Mast Cell DiseaseKIT D816V MutationSuspected KITD816V Mutated Clonal Mast Cell Disease

Locations

AllerVie Clinical Research

Birmingham, Alabama 35209

United States

O'Neal Comprehensive Cancer Center at the UAB

Birmingham, Alabama 35294

United States

Kaiser Permanente San Diego

San Diego, California 92123

United States

Allergy & Asthma Clinical Research of the Bay Area

Walnut Creek, California 94598

United States

Allergy, Asthma, & Immunology Associates of Tampa Bay

Tampa, Florida 33613

United States

Emory University

Atlanta, Georgia 30322

United States

Northwestern Medicine Allergy and Immunology

Chicago, Illinois 60611

United States

Midwest Allergy Sinus Asthma

Normal, Illinois 61761

United States

University of Kansas Medical Center

Kansas City, Kansas 66160

United States

Tulane University School of Medicine

New Orleans, Louisiana 70112

United States

AllerVie Health

Glenn Dale, Maryland 20769

United States

Barnes-Jewish West County Hospital

St Louis, Missouri 63141

United States

Somnos Clinical Research

Lincoln, Nebraska 68510

United States

Mount Sinai Hospital

New York, New York 10029

United States

The University of North Carolina at Chapel Hill

Chapel Hill, North Carolina 27599

United States

Allergy, Asthma & Clinical Research Center

Oklahoma City, Oklahoma 73120

United States

Allergy & Clinical Immunology Associates

Pittsburgh, Pennsylvania 15241

United States

Care Access Research

Warwick, Rhode Island 02886

United States

AIR Care

Dallas, Texas 75231

United States