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New study screens for hidden genetic marker in mysterious mast cell disorders

NCT ID NCT07143669

Knowledge-focused Sponsor: Blueprint Medicines Corporation Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Aug 13, 2026 · Updated 2 times

Summary

This study aims to find how common the KIT D816V mutation is in people with suspected clonal mast cell disease. Researchers will collect blood samples from 450 participants and test them using two sensitive methods. The results may improve understanding and diagnosis of these rare conditions.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this study could help doctors better identify which patients have a specific genetic mutation linked to mast cell diseases, potentially guiding future treatments.
What could go wrong
This is an observational screening study, not a treatment trial. It will not directly improve health, and results may not apply to all patients or lead to new therapies.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 750 people

The number the study aims to enrol. It can still change while the study runs.

Started

Oct 2025

Expected to finish

Oct 2028

An estimate. End dates often move.

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Adult participants with suspected clonal mast cell disease

Ages

18 years and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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 * 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: 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. * 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". Key Exclusion Criteria: * Participants previously diagnosed with any of the following: 1. Monoclonal mast cell activation syndrome with a known KIT mutation 2. Any subtype of systemic mastocytosis 3. 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.

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Conditions

The condition(s) this trial relates to.

chronic myelomonocytic leukemia cutaneous mastocytosis mastocytosis monoclonal mast cell activation syndrome postural orthostatic tachycardia syndrome red meat allergy

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Clonal mast cell disease KIT D816V mutation Suspected KITD816V mutated clonal mast cell disease

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The study's own enquiry address

    This study publishes an address for enquiries. See it below .

  2. The places running it

    22 sites. The list below names each one and where it is.

  3. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  4. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Study contacts

  • Contact

    Email: •••••@•••••

  • Contact

    Email: •••••@•••••

Locations

  • AIR Care

    RECRUITING

    Dallas, Texas, 75231, United States

  • AllerVie Clinical Research

    RECRUITING

    Birmingham, Alabama, 35209, United States

  • AllerVie Health

    RECRUITING

    Glenn Dale, Maryland, 20769, United States

  • Allergy & Asthma Clinical Research of the Bay Area

    RECRUITING

    Walnut Creek, California, 94598, United States

  • Allergy & Clinical Immunology Associates

    RECRUITING

    Pittsburgh, Pennsylvania, 15241, United States

  • Allergy, Asthma & Clinical Research Center

    RECRUITING

    Oklahoma City, Oklahoma, 73120, United States

  • Allergy, Asthma, & Immunology Associates of Tampa Bay

    RECRUITING

    Tampa, Florida, 33613, United States

  • Barnes-Jewish West County Hospital

    RECRUITING

    St Louis, Missouri, 63141, United States

  • Care Access Research

    RECRUITING

    Warwick, Rhode Island, 02886, United States

  • Emory University

    RECRUITING

    Atlanta, Georgia, 30322, United States

  • Kaiser Permanente San Diego

    RECRUITING

    San Diego, California, 92123, United States

  • Mayo Clinic Rochester

    RECRUITING

    Rochester, Minnesota, 55905, United States

  • Medical University of South Carolina

    RECRUITING

    Charleston, South Carolina, 29425, United States

  • Midwest Allergy Sinus Asthma

    RECRUITING

    Normal, Illinois, 61761, United States

  • Mount Sinai Hospital

    RECRUITING

    New York, New York, 10029, United States

  • Northwestern Medicine Allergy and Immunology

    RECRUITING

    Evanston, Illinois, 60208, United States

  • O'Neal Comprehensive Cancer Center at the UAB

    RECRUITING

    Birmingham, Alabama, 35294, United States

  • Somnos Clinical Research

    RECRUITING

    Lincoln, Nebraska, 68510, United States

  • The University of North Carolina at Chapel Hill

    RECRUITING

    Chapel Hill, North Carolina, 27599, United States

  • Tulane University School of Medicine

    RECRUITING

    New Orleans, Louisiana, 70112, United States

  • University of Kansas Medical Center

    RECRUITING

    Kansas City, Kansas, 66160, United States

  • University of Nebraska

    RECRUITING

    Omaha, Nebraska, 68588, United States

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