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
| Arm | Description | Assigned Intervention |
|---|---|---|
| Cohort 1 | Participants with symptoms of mast cell activation (SMAC). |
|
| Cohort 2 | Participants with select diseases with suspected clonal mast cell involvement. |
|
| Cohort 3 | Participants with chronic myelomonocytic leukemia or myelodysplastic syndrome/myeloproliferative neoplasm not otherwise specified. |
|
Recruiting Locations
AllerVie Clinical Research
Birmingham, Alabama 35209
Birmingham, Alabama 35209
Kaiser Permanente San Diego
San Diego, California 92123
San Diego, California 92123
Allergy & Asthma Clinical Research of the Bay Area
Walnut Creek, California 94598
Walnut Creek, California 94598
Allergy, Asthma, & Immunology Associates of Tampa Bay
Tampa, Florida 33613
Tampa, Florida 33613
Emory University
Atlanta, Georgia 30322
Atlanta, Georgia 30322
Midwest Allergy Sinus Asthma
Normal, Illinois 61761
Normal, Illinois 61761
AllerVie Health
Glenn Dale, Maryland 20769
Glenn Dale, Maryland 20769
Barnes-Jewish West County Hospital
St Louis, Missouri 63141
St Louis, Missouri 63141
Somnos Clinical Research
Lincoln, Nebraska 68510
Lincoln, Nebraska 68510
The University of North Carolina at Chapel Hill
Chapel Hill, North Carolina 27599
Chapel Hill, North Carolina 27599
Allergy, Asthma & Clinical Research Center
Oklahoma City, Oklahoma 73120
Oklahoma City, Oklahoma 73120
Allergy & Clinical Immunology Associates
Pittsburgh, Pennsylvania 15241
Pittsburgh, Pennsylvania 15241
Care Access Research
Warwick, Rhode Island 02886
Warwick, Rhode Island 02886
AIR Care
Dallas, Texas 75231
Dallas, Texas 75231
More Details
- Status
- Recruiting
- Sponsor
- Blueprint Medicines Corporation