(PROSPECTOR) Screening Study Evaluating the Prevalence of the KIT D816V Mutation in Patients With Systemic Mast Cell Activation

NCT ID: NCT04811365

Last Updated: 2023-04-06

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

COMPLETED

Total Enrollment

379 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-06-29

Study Completion Date

2023-03-31

Brief Summary

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This is a multi-center screening study with the primary objective to determine the prevalence of KIT D816V mutation in peripheral blood in patients with evidence of systemic mast cell activation (MCA).

Detailed Description

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Conditions

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Systemic Mast Cell Activation KIT D816V Mutation

Study Design

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Observational Model Type

OTHER

Study Time Perspective

PROSPECTIVE

Interventions

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Screening

After providing informed consent, relevant medical history data, and blood and buccal swab samples will be collected at a single visit from patients presenting with systemic mast cell activation symptoms

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* Presenting with at least one of the three criteria below as evidence of systemic mast cell activation:

1. Involvement of 2 or more organ systems, characterized by skin (pruritus, urticaria, flushing and angioedema), cardiovascular (tachycardia, syncope, and hypotension), gastrointestinal (diarrhea, nausea, vomiting, and gastrointestinal cramping) or respiratory/naso-ocular (wheezing, conjunctival injection, and nasal stuffiness) AND serum basal tryptase levels ≥8 ng/ml. One of the organ systems must be the cardiovascular system.
2. Severe anaphylaxis (Ring and Messmer grading ≥II) due to Hymenoptera sting, regardless of serum basal tryptase levels.
3. Severe anaphylaxis (Ring and Messmer grading ≥II), with cardiovascular involvement and documented event-related tryptase elevation fitting the formula 20% of baseline plus 2 ng/ml evaluated in at least 1 event.

Exclusion Criteria

* Patient previously diagnosed with any of the following WHO systemic mastocytosis (SM) sub-classifications: mastocytosis in the skin, indolent SM, smoldering SM, SM with associated hematological neoplasm, aggressive SM, mast cell leukemia, mast cell sarcoma
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Blueprint Medicines Corporation

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Clinical Research Center of Alabama

Birmingham, Alabama, United States

Site Status

Scripps Clinic Carmel Valley

San Diego, California, United States

Site Status

Brigham and Women's Hospital

Boston, Massachusetts, United States

Site Status

University of Michigan

Ann Arbor, Michigan, United States

Site Status

Mayo Clinic

Rochester, Minnesota, United States

Site Status

Roswell Park Cancer Center

Buffalo, New York, United States

Site Status

Albert P. Hirdt D.O. P.C.

New Paltz, New York, United States

Site Status

Columbia University Medical Center - Herbert Irving Comprehensive Cancer Center HICCC

New York, New York, United States

Site Status

Duke University: Duke Allergy Asthma Airway Center

Durham, North Carolina, United States

Site Status

Bernstein Clinical Research Center, LLC

Cincinnati, Ohio, United States

Site Status

Antwerp University Hospital UZA

Edegem, , Belgium

Site Status

Pitié-Salpêtrière Hospital

Paris, , France

Site Status

CHU Toulouse

Toulouse, , France

Site Status

Charite Universitatsmedizin Berlin

Berlin, , Germany

Site Status

Medizinische Hochschule Hannover, Dept. of Dermatology and Allergy

Hanover, , Germany

Site Status

Klinik fuer Dermatologie und Allergologie

München, , Germany

Site Status

AOU San Giovanni di Dio e Ruggi d'Aragona University of Salerno

Salerno, , Italy

Site Status

Azienda Ospedaliera Universitaria Integrata Verona

Verona, , Italy

Site Status

Hospital Virgen del Valle

Toledo, , Spain

Site Status

University of Basel

Basel, , Switzerland

Site Status

University Hospital of Leicester

Leicester, , United Kingdom

Site Status

Guy's and St Thomas' NHS Foundation Trust

London, , United Kingdom

Site Status

University Hospitals Plymouth NHS Trust

Plymouth, , United Kingdom

Site Status

Countries

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United States Belgium France Germany Italy Spain Switzerland United Kingdom

Other Identifiers

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BLU-SM-1101

Identifier Type: -

Identifier Source: org_study_id

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