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

Purpose

This is a multicenter screening study to characterize the prevalence of the KIT D816V mutation in participants with suspected clonal mast cell disease.

Conditions

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

Eligibility

Eligible Ages
Over 18 Years
Eligible Sex
All
Accepts Healthy Volunteers
No

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.

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.

Study Design

Phase
Study Type
Observational
Observational Model
Cohort
Time Perspective
Prospective

Arm Groups

ArmDescriptionAssigned Intervention
Cohort 1 Participants with symptoms of mast cell activation (SMAC).
  • Other: Screening
    After providing informed consent and relevant medical history data, samples will be collected from participants with suspected clonal mast cell disease.
Cohort 2 Participants with select diseases with suspected clonal mast cell involvement.
  • Other: Screening
    After providing informed consent and relevant medical history data, samples will be collected from participants with suspected clonal mast cell disease.
Cohort 3 Participants with chronic myelomonocytic leukemia or myelodysplastic syndrome/myeloproliferative neoplasm not otherwise specified.
  • Other: Screening
    After providing informed consent and relevant medical history data, samples will be collected from participants with suspected clonal mast cell disease.

Recruiting Locations

O'Neal Comprehensive Cancer Center at the UAB
Birmingham, Alabama 35294

More Details

Status
Recruiting
Sponsor
Blueprint Medicines Corporation

Study Contact

Blueprint Medicines
+1-888-258-7768
medinfo@blueprintmedicines.com