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

KIT D816V Mutation Clinical Trial

Official title:

Study Evaluating the Prevalence of the KIT D816V Mutation in Peripheral Blood of Patients With Evidence of Systemic Mast Cell Activation (MCA)

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04811365
• Other study ID #: BLU-SM-1101
• Status: Completed
• Start date: June 29, 2021
• Est. completion date: March 31, 2023

Study information

• Verified date: April 2023
• Source: Blueprint Medicines Corporation
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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).

Recruitment information / eligibility

• Status: Completed
• Enrollment: 379
• Est. completion date: March 31, 2023
• Est. primary completion date: March 31, 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• KIT D816V Mutation
• Systemic Mast Cell Activation

Intervention

Other:
• 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

Locations

Country	Name	City	State
Belgium	Antwerp University Hospital UZA	Edegem
France	Pitié-Salpêtrière Hospital	Paris
France	CHU Toulouse	Toulouse
Germany	Charite Universitatsmedizin Berlin	Berlin
Germany	Medizinische Hochschule Hannover, Dept. of Dermatology and Allergy	Hannover
Germany	Klinik fuer Dermatologie und Allergologie	Munchen
Italy	AOU San Giovanni di Dio e Ruggi d'Aragona University of Salerno	Salerno
Italy	Azienda Ospedaliera Universitaria Integrata Verona	Verona
Spain	Hospital Virgen del Valle	Toledo
Switzerland	University of Basel	Basel
United Kingdom	University Hospital of Leicester	Leicester
United Kingdom	Guy's and St Thomas' NHS Foundation Trust	London
United Kingdom	University Hospitals Plymouth NHS Trust	Plymouth
United States	University of Michigan	Ann Arbor	Michigan
United States	Clinical Research Center of Alabama	Birmingham	Alabama
United States	Brigham and Women's Hospital	Boston	Massachusetts
United States	Roswell Park Cancer Center	Buffalo	New York
United States	Bernstein Clinical Research Center, LLC	Cincinnati	Ohio
United States	Duke University: Duke Allergy Asthma Airway Center	Durham	North Carolina
United States	Albert P. Hirdt D.O. P.C.	New Paltz	New York
United States	Columbia University Medical Center - Herbert Irving Comprehensive Cancer Center HICCC	New York	New York
United States	Mayo Clinic	Rochester	Minnesota
United States	Scripps Clinic Carmel Valley	San Diego	California

Sponsors (1)

Lead Sponsor	Collaborator
Blueprint Medicines Corporation

Countries where clinical trial is conducted

United States,  Belgium,  France,  Germany,  Italy,  Spain,  Switzerland,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Proportion of patients with KIT D816V mutation in peripheral blood		Day 1
Secondary	Mean KIT D816V mutated allele fraction in peripheral blood		Day 1
Secondary	Proportion of patients with increased tryptase Alpha/ Beta 1 (TPSAB1) alpha-tryptase gene copy number (GCN) in buccal mucosa		Day 1