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Recruiting NCT07143669

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

— Observational Clonal Mast Cell Disease KIT D816V Mutation Suspected KITD816V Mutated Clonal Mast Cell Disease

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: Screening.
Who it may be relevant to
Registry conditions: Clonal Mast Cell Disease, KIT D816V Mutation, Suspected KITD816V Mutated Clonal Mast Cell Disease. Basic parameters: from 18 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United States
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

A Multicenter Screening Study to Characterize the Prevalence of the KIT D816V Mutation in Patients With Suspected Clonal Mast Cell Disease

Overview

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

Interventions

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

Primary outcome measures

  • 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 Rolling Circle Amplification (RCA) Assay [Time frame: Day 1]

Eligibility criteria

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
  • 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.

Exclusion criteria

  • 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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

United States · 19 centers
  • AllerVie Clinical Research — Birmingham
  • O'Neal Comprehensive Cancer Center at the UAB — Birmingham
  • Kaiser Permanente San Diego — San Diego
  • Allergy & Asthma Clinical Research of the Bay Area — Walnut Creek
  • Allergy, Asthma, & Immunology Associates of Tampa Bay — Tampa
  • Emory University — Atlanta
  • Northwestern Medicine Allergy and Immunology — Chicago
  • Midwest Allergy Sinus Asthma — Normal
  • … and 11 more centers

Identifiers

NCT: NCT07143669 · BLU-MCAD-1101

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗