NCT07143669 · Blueprint Medicines Corporation
Screening Study for KIT D816V Mutated Mast Cell Disease in Select Populations
What this study is about
This is a conducted at multiple hospitals screening study to characterize the prevalence of the KIT D816V mutation in participants with suspected clonal mast cell disease.
View original scientific description
This is a multicenter screening study to characterize the prevalence of the KIT D816V mutation in participants with suspected clonal mast cell disease.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
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:
- Either hypermobile Ehlers-Danlos syndrome or documented history of hypermobility spectrum disorder.
- Postural orthostatic tachycardia syndrome with one or more systemic symptoms.
- 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:
- Monoclonal mast cell activation syndrome with a known KIT mutation
- Cutaneous mastocytosis only (that is, no documentation of systemic mast cell disease via bone marrow biopsy)
- Any subtype of systemic mastocytosis
- 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.
Where
- Birmingham, Alabama
- San Diego, California
- Walnut Creek, California
- Tampa, Florida
- Atlanta, Georgia
- Chicago, Illinois
- Normal, Illinois
- Kansas City, Kansas
- New Orleans, Louisiana
- Glenn Dale, Maryland
- St Louis, Missouri
- Lincoln, Nebraska
And 6 more locations — see the full list below.
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Jun 25, 2026 · Source of record for eligibility and locations