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RecruitingNCT07143669POLARISUpdated Oct 7, 2026

Screening Study for KIT D816V Mutated Mast Cell Disease in Select Populations

An observational study in Clonal Mast Cell Disease, KIT D816V Mutation and Suspected KITD816V Mutated Clonal Mast Cell Disease, sponsored by Blueprint Medicines Corporation. Recruiting at 26 sites in 2 countries. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-10-07.

Sponsored by Blueprint Medicines Corporation (part of Sanofi) · Observational

From the registry’s dates

  • Started Oct 2025; still recruiting 1 year later.
Updated Oct 7, 2026First site in Belgium4 sites addedGo to Updates ↓
Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
750
Ages
18 Years and older
Sex
All
01

Study summary

This is a multicenter screening study to characterize the prevalence of the KIT D816V mutation in participants with suspected clonal mast cell disease.

02

Conditions studied

  • Clonal Mast Cell Disease
  • KIT D816V Mutation
  • Suspected KITD816V Mutated Clonal Mast Cell Disease

Keywords

  • Mast Cell Activation Disorder
  • MDS/MPN Overlap Syndrome
  • Chronic Myelomonocytic Leukemia
  • Hypermobility Syndrome Disorder
  • Postural Orthostatic Tachycardia Syndrome
  • Early Onset Osteoporosis
  • Alpha-Gal Syndrome
  • Cutaneous Mastocytosis
03

In context

Mastocytosis

49 studies on the registry are indexed under Mastocytosis; 14 are open to participants now.

This study's planned enrollment of 750 is above the median of 200 across 25 observational studies indexed under Mastocytosis.

Browse Mastocytosis studies →

Lead sponsor

Blueprint Medicines Corporation is the lead sponsor of 32 studies on the registry; 6 are open to participants now.

Of its 14 completed or terminated interventional studies of FDA-regulated products, 3 (21%) have results posted.

First submitted after Blueprint Medicines Corporation became part of Sanofi.

Browse Blueprint Medicines Corporation studies →All Sanofi studies →

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
18 Years and older
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

Adult participants with suspected clonal mast cell disease

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.

05

Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
750 participants (estimated)
Patient registry
No
Biospecimen retention
Samples with dna

Groups and cohorts

  • Cohort 1

    Participants with symptoms of mast cell activation

    Other: Screening

  • Cohort 2

    Participants with select diseases with suspected clonal mast cell involvement

    Other: Screening

  • Cohort 3

    Participants with chronic myelomonocytic leukemia (CMML), or myelodysplastic syndrome/myeloproliferative neoplasm not otherwise specified (MDS/MPN-NOS)

    Other: Screening

  • Cohort 4

    Participants with cutaneous mast cell involvement

    Other: Screening

Interventions

  • OtherScreening

    After providing informed consent and relevant medical history data, samples will be collected from participants with suspected clonal mast cell disease.

06

What researchers measure

Primary outcomes

  1. Proportion of Participants in Cohort 1 with KIT D816V Mutation in Peripheral Blood as Measured by Digital Droplet Polymerase Chain Reaction (ddPCR)

    Time frame: Day 1

  2. Proportion of Participants in Cohort 1 with KIT D816V Mutation in Peripheral Blood as Measured by Ultra-sensitive KIT D816V by Super Rolling Circle Amplification (superRCA) Assay

    Time frame: Day 1

07

Study locations

26 of 26 sites recruiting
08

Timeline

1 registry update since Sep 25, 2026
ElapsedEstimatedEstimated, not yet reached

Started Oct 2025 (actual). Primary completion is estimated for Jul 2028, 33 months after the start.

How these figures are worked out, and which studies are left out of them.

Registered
Aug 20, 2025
First posted
Aug 27, 2025
StartActual
Oct 17, 2025
Primary completionEst.
Jul 31, 2028
CompletionEst.
Oct 31, 2028
Last update
Oct 7, 2026
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
Sites
4 sites added — first site in Belgium
Show 4 added (3 United States, 1 Belgium)
  • Orso Health · Scottsdale, United States
  • Arizona Respiratory Center · Tucson, United States
  • Orso Health · La Jolla, United States
  • UZ Leuven Hospital · Leuven, Belgium
Oct 7, 2026
Show all 1 update
  1. Oct 7, 2026
    4 sites added — first site in Belgium
    Show 4 added (3 United States, 1 Belgium)
    • Orso Health · Scottsdale, United States
    • Arizona Respiratory Center · Tucson, United States
    • Orso Health · La Jolla, United States
    • UZ Leuven Hospital · Leuven, Belgium
    + 1 other change: verification date

From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗

09

Registry details

Key details

Study ID
NCT07143669
Lead sponsor
Blueprint Medicines Corporation
Responsible party
Sponsor
First posted
Aug 27, 2025
Start date
Oct 17, 2025
Primary completion
Jul 31, 2028 (estimated)
Completion
Oct 31, 2028 (estimated)
Last update
Oct 7, 2026

Study contacts

Blueprint Medicines
Contact
medinfo@blueprintmedicines.com
+1-888-258-7768
Blueprint Medicines, EU Contact
Contact
medinfoeurope@blueprintmedicines.com
+31 85 064 4001

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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