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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

AZ

CA

FL

GA

IL

KS

LA

MD

MN

MO

NC

NE

NY

OK

PA

RI

SC

TX