Screening Study for KIT D816V Mutated Mast Cell Disease in Select Populations
A Multicenter Screening Study to Characterize the Prevalence of the KIT D816V Mutation in Patients With Suspected Clonal Mast Cell Disease
Who can join
As published by the study on ClinicalTrials.gov. "Not stated" means the study hasn't said — ask the study team.
- Age
- 18 Years and older
- Sex
- All sexes
- Healthy volunteers
- Not accepted
- Compensation
- Not stated
Other requirements are listed under Eligibility below. Only the study team can confirm whether you can join.
What to expect
No one can promise a trial will help you personally — that is what the research is trying to find out.
What participation involves
Not stated in the study description — ask the study team about visits and procedures.
- Compensation
- Not stated
- Study-related exams and procedures are typically provided at no cost. This is how many trials work in general — confirm the details for this study with the study team.
- Participants are monitored closely by the research team throughout the study.
- Some participants may receive access to an investigational treatment, which is still being studied.
- Your participation helps researchers learn whether this approach could help future patients.
About this study
In plain language
This study checks how common a gene change called KIT D816V is in people who may have mast cell disease. Mast cells are cells involved in allergic reactions. The study is for people with certain severe allergic reactions, symptoms, or diagnosed health conditions.
This is a multicenter screening study to characterize the prevalence of the KIT D816V mutation in participants with suspected clonal mast cell disease.
Compensation is read from the study's own description and may be missing — always confirm with the study team.
Eligibility
Who can join
- You must fit one of the study groups below. Other study rules also apply.
- Group 1, option A: A severe allergic reaction (anaphylaxis) to insect venom with heart or blood flow symptoms; a severe reaction with no clear cause; or a severe reaction after eating meat such as beef or pork, with a history of high alpha-gal allergy blood test results.
- Group 1, option B: Repeated symptoms with no known trigger in at least 2 areas: skin, breathing or nose and eyes, digestion, or heart and blood flow. You must also have some response to treatment aimed at chemicals released by mast cells.
- Group 2: A confirmed diagnosis of hypermobile Ehlers-Danlos syndrome or a documented history of hypermobility spectrum disorder, which involve overly flexible joints; POTS, which causes a fast heartbeat when standing, with at least one body-wide symptom; or low bone density or weakened bones that started at age 50 or younger.
- Group 3: A documented diagnosis of chronic myelomonocytic leukemia or myelodysplastic syndrome/myeloproliferative neoplasm not otherwise specified. These are blood and bone marrow disorders, and the diagnosis must meet the listed World Health Organization rules.
- Group 4: A documented diagnosis of mastocytosis in the skin, a buildup of mast cells, with KIT D816V not previously found in blood or bone marrow; or a diagnosis or exam findings of cutaneous mastocytosis, which affects the skin.
Who can't join
- A past diagnosis of monoclonal mast cell activation syndrome, a mast cell disorder, with a known KIT gene change.
- A past diagnosis of any type of systemic mastocytosis, a buildup of mast cells in the body.
- A past diagnosis of mast cell sarcoma, a cancer of mast cells.
- Group 2 only: Low bone density or weakened bones caused by a known genetic, hormone, nutrition, or other medical condition.
Simplified for readability. The official criteria below are what the study team uses.
Official eligibility criteria
Key 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". Key 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 sites (25)
AL
- AllerVie Clinical Research · Birmingham, AL 35209More trials in Birmingham
- O'Neal Comprehensive Cancer Center at the UAB · Birmingham, AL 35294More trials in Birmingham
AZ
- Orso Health · Scottsdale, AZ 85254More trials in Scottsdale
- Arizona Respiratory Center · Tucson, AZ 85724More trials in Tucson
CA
- Orso Health · La Jolla, CA 92037More trials in La Jolla
- Kaiser Permanente San Diego · San Diego, CA 92123More trials in San Diego
- Allergy & Asthma Clinical Research of the Bay Area · Walnut Creek, CA 94598More trials in Walnut Creek
FL
- Allergy, Asthma, & Immunology Associates of Tampa Bay · Tampa, FL 33613More trials in Tampa
GA
- Emory University · Atlanta, GA 30322More trials in Atlanta
IL
- Northwestern Medicine Allergy and Immunology · Evanston, IL 60208More trials in Evanston
- Midwest Allergy Sinus Asthma · Normal, IL 61761More trials in Normal
KS
- University of Kansas Medical Center · Kansas City, KS 66160More trials in Kansas City
LA
- Tulane University School of Medicine · New Orleans, LA 70112More trials in New Orleans
MD
- AllerVie Health · Glenn Dale, MD 20769More trials in Glenn Dale
MN
- Mayo Clinic Rochester · Rochester, MN 55905More trials in Rochester
MO
- Barnes-Jewish West County Hospital · St Louis, MO 63141More trials in St Louis
NC
- The University of North Carolina at Chapel Hill · Chapel Hill, NC 27599More trials in Chapel Hill
NE
- Somnos Clinical Research · Lincoln, NE 68510More trials in Lincoln
- University of Nebraska · Omaha, NE 68588More trials in Omaha
NY
- Mount Sinai Hospital · New York, NY 10029More trials in New York
OK
- Allergy, Asthma & Clinical Research Center · Oklahoma City, OK 73120More trials in Oklahoma City
PA
- Allergy & Clinical Immunology Associates · Pittsburgh, PA 15241More trials in Pittsburgh
RI
- Care Access Research · Warwick, RI 02886More trials in Warwick
SC
- Medical University of South Carolina · Charleston, SC 29425More trials in Charleston
TX
- AIR Care · Dallas, TX 75231More trials in Dallas