Clonal Mast Cell DiseasePOLARISNCT07143669
Screening Study for KIT D816V Mutated Mast Cell Disease in Select Populations
An observational study of Clonal Mast Cell Disease and KIT D816V Mutation, run by Blueprint Medicines Corporation at 26 sites in 2 countries.
Trial summary
This is a multicenter screening study to characterize the prevalence of the KIT D816V mutation in participants with suspected clonal mast cell disease. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Clonal Mast Cell Disease, KIT D816V Mutation, Suspected KITD816V Mutated Clonal Mast Cell Disease
- What is being tested?
- Screening
- How many people
- 750 participants
- Where
- 26 sitesin 2 countries
- Study dates
- 17 Oct 2025to 31 Oct 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Adult participants with suspected clonal mast cell disease
Who may be able to join
- 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.
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- 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".
Who cannot join
- 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.
Trial locations and contacts
26 sites in 2 countries. Contact the study team or a site near you to ask about taking part.
26 sites in 2 countries
United States25 sites, 25 recruiting
- Recruiting
Emory University
Atlanta, Georgia, 30322
- Recruiting
AllerVie Clinical Research
Birmingham, Alabama, 35209
- Recruiting
O'Neal Comprehensive Cancer Center at the UAB
Birmingham, Alabama, 35294
- Recruiting
The University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, 27599
- Recruiting
Medical University of South Carolina
Charleston, South Carolina, 29425
- Recruiting
AIR Care
Dallas, Texas, 75231
- Recruiting
Northwestern Medicine Allergy and Immunology
Evanston, Illinois, 60208
- Recruiting
AllerVie Health
Glenn Dale, Maryland, 20769
- Recruiting
University of Kansas Medical Center
Kansas City, Kansas, 66160
- Recruiting
Orso Health
La Jolla, California, 92037
- Recruiting
Somnos Clinical Research
Lincoln, Nebraska, 68510
- Recruiting
Tulane University School of Medicine
New Orleans, Louisiana, 70112
- Recruiting
Mount Sinai Hospital
New York, New York, 10029
- Recruiting
Midwest Allergy Sinus Asthma
Normal, Illinois, 61761
- Recruiting
Allergy, Asthma & Clinical Research Center
Oklahoma City, Oklahoma, 73120
- Recruiting
University of Nebraska
Omaha, Nebraska, 68588
- Recruiting
Allergy & Clinical Immunology Associates
Pittsburgh, Pennsylvania, 15241
- Recruiting
Mayo Clinic Rochester
Rochester, Minnesota, 55905
- Recruiting
Kaiser Permanente San Diego
San Diego, California, 92123
- Recruiting
Orso Health
Scottsdale, Arizona, 85254
- Recruiting
Barnes-Jewish West County Hospital
St Louis, Missouri, 63141
- Recruiting
Allergy, Asthma, & Immunology Associates of Tampa Bay
Tampa, Florida, 33613
- Recruiting
Arizona Respiratory Center
Tucson, Arizona, 85724
- Recruiting
Allergy & Asthma Clinical Research of the Bay Area
Walnut Creek, California, 94598
- Recruiting
Care Access Research
Warwick, Rhode Island, 02886
About this study
Official title: 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.
- Conditions
- Clonal Mast Cell Disease, KIT D816V Mutation, Suspected KITD816V Mutated Clonal Mast Cell Disease
- Being tested
- Screening
- 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
- Medical subject headings
- Mastocytosis, Leukemia, Myelomonocytic, Chronic, Postural Orthostatic Tachycardia Syndrome, red meat allergy, Mastocytosis, Cutaneous
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
ScreeningOther
After providing informed consent and relevant medical history data, samples will be collected from participants with suspected clonal mast cell disease.
| Study group | Role | What they receive |
|---|---|---|
| Cohort 1 | Participants with symptoms of mast cell activation Receives: Other: Screening | |
| Cohort 2 | Participants with select diseases with suspected clonal mast cell involvement Receives: Other: Screening | |
| Cohort 3 | Participants with chronic myelomonocytic leukemia (CMML), or myelodysplastic syndrome/myeloproliferative neoplasm not otherwise specified (MDS/MPN-NOS) Receives: Other: Screening | |
| Cohort 4 | Participants with cutaneous mast cell involvement Receives: Other: Screening |
What is being measured
The primary outcome is the main question the study is designed to answer.
Proportion of Participants in Cohort 1 with KIT D816V Mutation in Peripheral Blood as Measured by Digital Droplet Polymerase Chain Reaction (ddPCR)
Measured: Day 1
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
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Aug 2025
- Study start17 Oct 2025
- Primary completion31 Jul 2028 (estimated)
- Study completion31 Oct 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Clonal Mast Cell DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 750 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Blueprint Medicines Corporation
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07143669
- Sponsor's protocol ID
- BLU-MCAD-1101
- Acronym
- POLARIS
- Status last verified
- Oct 2026
- First submitted
- 20 Aug 2025
- Last updated
- 7 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 7 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Multicenter Screening Study to Characterize the Prevalence of the KIT D816V Mutation in Patients With Suspected Clonal Mast Cell Disease
- ClinicalTrials.gov ID
- NCT07143669
- Acronym / sponsor ID
- POLARIS / BLU-MCAD-1101
- Conditions
- 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
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 750 participants (estimated)
- Lead sponsor
- Blueprint Medicines CorporationIndustry (pharma, biotech, devices)
- Study start
- 17 Oct 2025 (actual)
- Primary completion
- 31 Jul 2028 (estimated)
- Study completion
- 31 Oct 2028 (estimated)
- First posted
- 27 Aug 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This is a multicenter screening study to characterize the prevalence of the KIT D816V mutation in participants with suspected clonal mast cell disease.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Cohort 1 | – | Other: ScreeningParticipants with symptoms of mast cell activation |
| Cohort 2 | – | Other: ScreeningParticipants with select diseases with suspected clonal mast cell involvement |
| Cohort 3 | – | Other: ScreeningParticipants with chronic myelomonocytic leukemia (CMML), or myelodysplastic syndrome/myeloproliferative neoplasm not otherwise specified (MDS/MPN-NOS) |
| Cohort 4 | – | Other: ScreeningParticipants with cutaneous mast cell involvement |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Adult participants with suspected clonal mast cell disease
Key inclusion criteria (13 listed)
- 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
Key exclusion criteria (6 listed)
- Participants previously diagnosed with any of the following:
- Cohort 2 only: Osteopenia or osteoporosis attributed to known genetic, endocrine, nutritional, or other medical conditions.
- Note: Additional protocol-defined criteria apply.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| ScreeningAfter providing informed consent and relevant medical history data, samples will be collected from participants with suspected clonal mast cell disease. | Other | Cohort 1, Cohort 2, Cohort 3, Cohort 4 |
Primary outcome
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
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Oct 2026.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
26 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Clonal Mast Cell Disease and KIT D816V Mutation, run by Blueprint Medicines Corporation at 26 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 13 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 7 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 26 sites in United States, Belgium. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Blueprint Medicines (+1-888-258-7768, medinfo@blueprintmedicines.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 7 Oct 2026.