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

ID#: NCT07143669

Age: 18 years - 66+

Gender: All

Healthy Subjects: No

Recruitment Status: Recruiting

Start Date: October 17, 2025

End Date: October 31, 2028

Contact Information:
Blueprint Medicines
+1-888-258-7768
Blueprint Medicines, EU Contact
+31 85 064 4001
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: 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.
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