Screening Adults With Suspected Clonal Mast Cell Disease for KIT D816V
Screens adults with suspected clonal mast cell disease to check for the KIT D816V mutation.
Plain-language title generated from the registry record
Registry title: Screening Study for KIT D816V Mutated Mast Cell Disease in Select Populations
Key facts
- Where
- Leuven, BelgiumSee the site
AI summary: who the study is looking for
From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.
This screening study is looking for adults who may have a mast cell disease linked to the KIT D816V gene change. It tests how common this change is in four groups of people.
- Age
- 18 years or older
- Sex
- All sexes can join.
- Disease stage
- Four groups can join: (1) people with unexplained or venom-related anaphylaxis, or repeated mast cell activation symptoms; (2) people with hypermobile Ehlers-Danlos syndrome, hypermobility spectrum disorder, postural orthostatic tachycardia syndrome, or early onset osteoporosis or osteopenia; (3) people with chronic myelomonocytic leukemia or a related blood disorder; (4) people with skin mastocytosis.
- Earlier treatment
- Group 1 (the second subgroup) needs some response to at least one therapy aimed at mast cell mediators.
- Biomarker or test result
- The study checks for the KIT D816V mutation. Group 4 needs a skin mastocytosis diagnosis with no KIT D816V found before.
Main reasons for not taking part
- A past diagnosis of monoclonal mast cell activation syndrome with a known KIT mutation
- A past diagnosis of any type of systemic mastocytosis
- A past diagnosis of mast cell sarcoma
- Group 2 only: osteopenia or osteoporosis caused by a known genetic, hormone, nutrition or other medical condition
Read by machine on 12 November 2026.
Where in Belgium
- UZ Leuven HospitalLeuven, BelgiumContact: Blueprint MedicinesTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorTrial details
- Who runs it
- Blueprint Medicines Corporation
- Trial code
- NCT07143669
- Record updated
- 7 October 2026
- Original description
This is a multicenter screening study to characterize the prevalence of the KIT D816V mutation in participants with suspected clonal mast cell disease.Read full original descriptionShow less
A Multicenter Screening Study to Characterize the Prevalence of the KIT D816V Mutation in Patients With Suspected Clonal Mast Cell Disease
This is a multicenter screening study to characterize the prevalence of the KIT D816V mutation in participants with suspected clonal mast cell disease.
Inclusion: Cohort 1 participants must meet inclusion criteria for either SMAC-A or SMAC-B:; 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:; Either hypermobile Ehlers-Danlos syndrome or documented history of hypermobility spectrum disorder; Postural orthostatic tachycardia syndrome with one or more systemic symptoms; 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: Participants previously diagnosed with any of the following:; Monoclonal mast cell activation syndrome with a known KIT mutation; Any subtype of systemic mastocytosis; 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.