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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

450 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-10-17

Study Completion Date

2028-10-31

Brief Summary

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

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Detailed Description

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Conditions

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

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Cohort 1

Participants with symptoms of mast cell activation (SMAC).

Screening

Intervention Type OTHER

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

Cohort 2

Participants with select diseases with suspected clonal mast cell involvement.

Screening

Intervention Type OTHER

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

Cohort 3

Participants with chronic myelomonocytic leukemia or myelodysplastic syndrome/myeloproliferative neoplasm not otherwise specified.

Screening

Intervention Type OTHER

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

Interventions

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Screening

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

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

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:

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.

Exclusion Criteria

* Participants previously diagnosed with any of the following:

1. Monoclonal mast cell activation syndrome with a known KIT mutation
2. Cutaneous mastocytosis only (that is, no documentation of systemic mast cell disease via bone marrow biopsy)
3. Any subtype of systemic mastocytosis
4. 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.

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No