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Screening for KIT D816V Mutation in Suspected Mast Cell Disease

This study is looking for people with suspected clonal mast cell disease (a condition where certain immune cells called mast cells grow too much) to understand how common a specific genetic change, called the KIT D816V mutation, is in these individuals. You might be able to join if you've had severe allergic reactions (anaphylaxis) with cardiovascular symptoms, either from insect stings or without a clear cause. The study involves collecting samples to check for this mutation using special tests. Researchers will measure the proportion of participants who have the KIT D816V mutation in their blood on the first day of the study.

Study design
This is an observational study aiming to enroll 450 participants. It is a screening study, meaning it looks for a specific characteristic (the KIT D816V mutation) in a group of people.
What's involved
After giving your consent and sharing your medical history, blood samples will be collected from you on Day 1 for testing.
Compensation
Not stated in the trial record.
Follow-up
The primary measurements for this study are taken on Day 1.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT07143669

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

Recruiting
Not specifiedAges 18+Observational
Blueprint Medicines Corporation
~750 participants
Updated 2026-08-12 on ClinicalTrials.gov
What's tested:Screening

At a glance

Recruiting sites
22 of 22 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Proportion of Participants in Cohort 1 with KIT D816V Mutation in Peripheral Blood as Measured by Digital Droplet Polymerase Chain Reaction (ddPCR)
Measured over Day 1
+1 more outcome measured

Conditions

Clonal Mast Cell Disease
KIT D816V Mutation
Suspected KITD816V Mutated Clonal Mast Cell Disease

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NCT07143669

Where you'd take part

This study runs at 22 sites. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • AIR Care

    Dallas, Texasno site contact published

    Recruiting

  • Allergy & Asthma Clinical Research of the Bay Area

    Walnut Creek, Californiano site contact published

    Recruiting

  • Allergy & Clinical Immunology Associates

    Pittsburgh, Pennsylvaniano site contact published

    Recruiting

  • Allergy, Asthma & Clinical Research Center

    Oklahoma City, Oklahomano site contact published

    Recruiting

  • Allergy, Asthma, & Immunology Associates of Tampa Bay

    Tampa, Floridano site contact published

    Recruiting

  • AllerVie Clinical Research

    Birmingham, Alabamano site contact published

    Recruiting

  • AllerVie Health

    Glenn Dale, Marylandno site contact published

    Recruiting

  • Barnes-Jewish West County Hospital

    St Louis, Missourino site contact published

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Who to contact

Blueprint Medicines
[email protected]
+1-888-258-7768
Email the study team

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Eligibility criteria

Inclusion

Documented anaphylaxis due to Hymenoptera venom with cardiovascular symptoms or
History of at least one event of anaphylaxis as determined by the Investigator's clinical assessment and judgment based on available medical history, clinical presentation, and supporting documentation without a clearly identifiable trigger(s) or allergen(s) (otherwise idiopathic anaphylaxis) OR
SMAC-AGS: History of anaphylaxis after eating mammalian meat (e.g. pork, beef) AND history of elevated alpha-gal (galactose-alpha 1, 3 galactose) serum IgE as determined by the Investigator's clinical assessment and supporting medical history documentation 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:
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.
Cohort 4 participants must have documented diagnosis of Mastocytosis in the Skin (MIS) with previously undetected KIT D816V mutation in peripheral blood (PB) or bone marrow (BM) OR Diagnosed cutaneous mastocytosis or physical examination findings indicative of "cutaneous mastocytosis".

Exclusion

Participants previously diagnosed with any of the following:
Cohort 2 only: Osteopenia or osteoporosis attributed to known genetic, endocrine, nutritional, or other medical conditions.

What this trial measures

  • 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 Super Rolling Circle Amplification (superRCA) AssayDay 1