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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

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 - 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".

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.

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
  • 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 (CMML), or myelodysplastic syndrome/myeloproliferative neoplasm not otherwise specified (MDS/MPN-NOS)
  • Other: Screening
    After providing informed consent and relevant medical history data, samples will be collected from participants with suspected clonal mast cell disease.
Cohort 4 Participants with cutaneous 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.

Recruiting Locations

AllerVie Clinical Research
Birmingham, Alabama 35209

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

Kaiser Permanente San Diego
San Diego, California 92123

Allergy & Asthma Clinical Research of the Bay Area
Walnut Creek, California 94598

Allergy, Asthma, & Immunology Associates of Tampa Bay
Tampa, Florida 33613

Emory University
Atlanta, Georgia 30322

Northwestern Medicine Allergy and Immunology
Evanston, Illinois 60208

Midwest Allergy Sinus Asthma
Normal, Illinois 61761

University of Kansas Medical Center
Kansas City, Kansas 66160

Tulane University School of Medicine
New Orleans, Louisiana 70112

AllerVie Health
Glenn Dale, Maryland 20769

Mayo Clinic Rochester
Rochester, Minnesota 55905

Barnes-Jewish West County Hospital
St Louis, Missouri 63141

Somnos Clinical Research
Lincoln, Nebraska 68510

University of Nebraska
Omaha, Nebraska 68588

Mount Sinai Hospital
New York, New York 10029

The University of North Carolina at Chapel Hill
Chapel Hill, North Carolina 27599

Allergy, Asthma & Clinical Research Center
Oklahoma City, Oklahoma 73120

Allergy & Clinical Immunology Associates
Pittsburgh, Pennsylvania 15241

Care Access Research
Warwick, Rhode Island 02886

Medical University of South Carolina
Charleston, South Carolina 29425

AIR Care
Dallas, Texas 75231

More Details

Status
Recruiting
Sponsor
Blueprint Medicines Corporation

Study Contact

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

Notice

Study information shown on this site is derived from ClinicalTrials.gov (a public registry operated by the National Institutes of Health). The listing of studies provided is not certain to be all studies for which you might be eligible. Furthermore, study eligibility requirements can be difficult to understand and may change over time, so it is wise to speak with your medical care provider and individual research study teams when making decisions related to participation.