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

Georgia's Online Cancer Information Center

Find A Clinical Trial

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

Status
Active
Cancer Type
Trial Phase
Eligibility
18 Years and older, Male and Female
Study Type
Other
NCT ID
NCT07143669
Protocol IDs
BLU-MCAD-1101 (primary)
NCI-2025-09146
Study Sponsor
Blueprint Medicines Corporation

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

  1. Cohort 1 participants must meet inclusion criteria for either SMAC-A or SMAC-B:
  2. SMAC-A
  3. Documented anaphylaxis due to Hymenoptera venom with cardiovascular symptoms or
  4. 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
  5. 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
  6. 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.
  7. Any clinical response on one or more optimally dosed therapies intended to mitigate mast cell mediators, as determined by the Investigator.
  8. Cohort 2 participants must have confirmed, known diagnosis of 1 of the following criteria:
  9. Either hypermobile Ehlers-Danlos syndrome or documented history of hypermobility spectrum disorder.
  10. Postural orthostatic tachycardia syndrome with one or more systemic symptoms.
  11. Early onset (=50 years old) osteoporosis or osteopenia.
  12. 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.
  13. 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

Treatment Sites in Georgia

Winship Cancer Institute of Emory University


1365 Clifton Road NE
Building C
Atlanta, GA 30322
winshipcancer.emory.edu

**Clinical trials are research studies that involve people. These studies test new ways to prevent, detect, diagnose, or treat diseases. People who take part in cancer clinical trials have an opportunity to contribute to scientists’ knowledge about cancer and to help in the development of improved cancer treatments. They also receive state-of-the-art care from cancer experts... Click here to learn more about clinical trials.