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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 - 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

AllerVie Clinical Research
Birmingham 4049979, Alabama 4829764 35209

Kaiser Permanente San Diego
San Diego 5391811, California 5332921 92123

Allergy & Asthma Clinical Research of the Bay Area
Walnut Creek 5406990, California 5332921 94598

Emory University
Atlanta 4180439, Georgia 4197000 30322

Midwest Allergy Sinus Asthma
Normal 4903780, Illinois 4896861 61761

AllerVie Health
Glenn Dale 4356289, Maryland 4361885 20769

Barnes-Jewish West County Hospital
St Louis 4407066, Missouri 4398678 63141

The University of North Carolina at Chapel Hill
Chapel Hill 4460162, North Carolina 4482348 27599

Allergy, Asthma & Clinical Research Center
Oklahoma City 4544349, Oklahoma 4544379 73120

Allergy & Clinical Immunology Associates
Pittsburgh 5206379, Pennsylvania 6254927 15241

Care Access Research
Warwick 5225507, Rhode Island 5224323 02886

AIR Care
Dallas 4684888, Texas 4736286 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.