RecruitingNCT07143669

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

A Multicenter Screening Study to Characterize the Prevalence of the KIT D816V Mutation in Patients With Suspected Clonal Mast Cell Disease


Sponsor

Blueprint Medicines Corporation

Enrollment

450 participants

Start Date

Oct 17, 2025

Study Type

OBSERVATIONAL

Conditions

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

Min Age: 18 Years

Plain Language Summary

Simplified for easier understanding

This study is screening people with certain conditions to find out if they have a specific genetic mutation (KIT D816V) linked to a disease called mast cell disease. Mast cells are immune cells that, when overactive or abnormal, can cause a range of symptoms. This study aims to identify undiagnosed mast cell disease in people with related conditions. **You may be eligible if...** - You have a history of severe allergic reactions (anaphylaxis), especially to bee/wasp stings or without a clear trigger, OR - You have episodes of unexplained symptoms affecting your skin, breathing, gut, or heart that respond to antihistamines or mast cell mediator treatments, OR - You have hypermobile Ehlers-Danlos syndrome, postural tachycardia syndrome (POTS), or early-onset bone loss (osteoporosis/osteopenia), OR - You have a bone marrow condition called chronic myelomonocytic leukemia or myelodysplastic syndrome **You may NOT be eligible if...** - You have already been diagnosed with systemic mastocytosis, mast cell sarcoma, or a known KIT mutation in mast cells - Your bone loss is explained by another known cause (hormonal, nutritional, or genetic) Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Interventions

OTHERScreening

After providing informed consent and relevant medical history data, samples will be collected from participants with suspected clonal mast cell disease.


Locations(17)

AllerVie Clinical Research

Birmingham, Alabama, United States

O'Neal Comprehensive Cancer Center at the UAB

Birmingham, Alabama, United States

Kaiser Permanente San Diego

San Diego, California, United States

Allergy & Asthma Clinical Research of the Bay Area

Walnut Creek, California, United States

Allergy, Asthma, & Immunology Associates of Tampa Bay

Tampa, Florida, United States

Emory University

Atlanta, Georgia, United States

Midwest Allergy Sinus Asthma

Normal, Illinois, United States

Tulane University School of Medicine

New Orleans, Louisiana, United States

AllerVie Health

Glenn Dale, Maryland, United States

Barnes-Jewish West County Hospital

St Louis, Missouri, United States

Somnos Clinical Research

Lincoln, Nebraska, United States

Mount Sinai Hospital

New York, New York, United States

The University of North Carolina at Chapel Hill

Chapel Hill, North Carolina, United States

Allergy, Asthma & Clinical Research Center

Oklahoma City, Oklahoma, United States

Allergy & Clinical Immunology Associates

Pittsburgh, Pennsylvania, United States

Care Access Research

Warwick, Rhode Island, United States

AIR Care

Dallas, Texas, United States

View Full Details on ClinicalTrials.gov

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NCT07143669