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
1 other identifier
observational
450
1 country
17
Brief Summary
This is a multicenter screening study to characterize the prevalence of the KIT D816V mutation in participants with suspected clonal mast cell disease.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Oct 2025
Typical duration for all trials
17 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
August 20, 2025
CompletedFirst Posted
Study publicly available on registry
August 27, 2025
CompletedStudy Start
First participant enrolled
October 17, 2025
CompletedPrimary Completion
Last participant's last visit for primary outcome
July 31, 2028
ExpectedStudy Completion
Last participant's last visit for all outcomes
October 31, 2028
April 20, 2026
April 1, 2026
2.8 years
August 20, 2025
April 17, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (2)
Proportion of Participants in Cohort 1 with KIT D816V Mutation in Peripheral Blood as Measured by Digital Droplet Polymerase Chain Reaction (ddPCR)
Day 1
Proportion of Participants in Cohort 1 with KIT D816V Mutation in Peripheral Blood as Measured by Ultra-sensitive KIT D816V by Rolling Circle Amplification (RCA) Assay
Day 1
Study Arms (3)
Cohort 1
Participants with symptoms of mast cell activation (SMAC).
Cohort 2
Participants with select diseases with suspected clonal mast cell involvement.
Cohort 3
Participants with chronic myelomonocytic leukemia or myelodysplastic syndrome/myeloproliferative neoplasm not otherwise specified.
Interventions
After providing informed consent and relevant medical history data, samples will be collected from participants with suspected clonal mast cell disease.
Eligibility Criteria
Adult participants with suspected clonal mast cell disease
You may qualify if:
- \. SMAC-A
- Documented anaphylaxis due to Hymenoptera venom with cardiovascular symptoms or
- Documented anaphylaxis without known trigger(s) or allergen(s) warranting hospitalization, emergency room visit, and/or epinephrine with cardiovascular symptoms 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.
You may not qualify if:
- Participants previously diagnosed with any of the following:
- Monoclonal mast cell activation syndrome with a known KIT mutation
- Cutaneous mastocytosis only (that is, no documentation of systemic mast cell disease via bone marrow biopsy)
- 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.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (17)
AllerVie Clinical Research
Birmingham, Alabama, 35209, United States
O'Neal Comprehensive Cancer Center at the UAB
Birmingham, Alabama, 35294, United States
Kaiser Permanente San Diego
San Diego, California, 92123, United States
Allergy & Asthma Clinical Research of the Bay Area
Walnut Creek, California, 94598, United States
Allergy, Asthma, & Immunology Associates of Tampa Bay
Tampa, Florida, 33613, United States
Emory University
Atlanta, Georgia, 30322, United States
Midwest Allergy Sinus Asthma
Normal, Illinois, 61761, United States
Tulane University School of Medicine
New Orleans, Louisiana, 70112, United States
AllerVie Health
Glenn Dale, Maryland, 20769, United States
Barnes-Jewish West County Hospital
St Louis, Missouri, 63141, United States
Somnos Clinical Research
Lincoln, Nebraska, 68510, United States
Mount Sinai Hospital
New York, New York, 10029, United States
The University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, 27599, United States
Allergy, Asthma & Clinical Research Center
Oklahoma City, Oklahoma, 73120, United States
Allergy & Clinical Immunology Associates
Pittsburgh, Pennsylvania, 15241, United States
Care Access Research
Warwick, Rhode Island, 02886, United States
AIR Care
Dallas, Texas, 75231, United States
Biospecimen
Blood, Serum, Tissue
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- INDUSTRY
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
August 20, 2025
First Posted
August 27, 2025
Study Start
October 17, 2025
Primary Completion (Estimated)
July 31, 2028
Study Completion (Estimated)
October 31, 2028
Last Updated
April 20, 2026
Record last verified: 2026-04