Clinical trial NCT04811365: (PROSPECTOR) Screening Study Evaluating the Prevalence of the KIT D816V Mutation in Patients With Systemic Mast Cell Activation
Official title: Study Evaluating the Prevalence of the KIT D816V Mutation in Peripheral Blood of Patients With Evidence of Systemic Mast Cell Activation (MCA)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Systemic Mast Cell Activation
KIT D816V Mutation
Lead sponsor: Blueprint Medicines Corporation
Sponsor class: INDUSTRY
First posted: 2021-03-23
Enrollment: 379
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Adult patients with systemic mast cell activation

Brief 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).


Eligibility criteria: 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

Primary outcomes:
measure: Proportion of patients with KIT D816V mutation in peripheral blood
timeFrame: Day 1
Secondary outcomes:
measure: Mean KIT D816V mutated allele fraction in peripheral blood
timeFrame: Day 1
measure: Proportion of patients with increased tryptase Alpha/ Beta 1 (TPSAB1) alpha-tryptase gene copy number (GCN) in buccal mucosa
timeFrame: Day 1
Other outcomes:
Locations:
city: Birmingham
country: United States
facility: Clinical Research Center of Alabama
state: Alabama
city: San Diego
country: United States
facility: Scripps Clinic Carmel Valley
state: California
city: Boston
country: United States
facility: Brigham and Women's Hospital
state: Massachusetts
city: Ann Arbor
country: United States
facility: University of Michigan
state: Michigan
city: Rochester
country: United States
facility: Mayo Clinic
state: Minnesota
city: Buffalo
country: United States
facility: Roswell Park Cancer Center
state: New York
city: New Paltz
country: United States
facility: Albert P. Hirdt D.O. P.C.
state: New York
city: New York
country: United States
facility: Columbia University Medical Center - Herbert Irving Comprehensive Cancer Center HICCC
state: New York
city: Durham
country: United States
facility: Duke University: Duke Allergy Asthma Airway Center
state: North Carolina
city: Cincinnati
country: United States
facility: Bernstein Clinical Research Center, LLC
state: Ohio
city: Edegem
country: Belgium
facility: Antwerp University Hospital UZA
city: Paris
country: France
facility: Pitié-Salpêtrière Hospital
city: Toulouse
country: France
facility: CHU Toulouse
city: Berlin
country: Germany
facility: Charite Universitatsmedizin Berlin
city: Hannover
country: Germany
facility: Medizinische Hochschule Hannover, Dept. of Dermatology and Allergy
city: Munchen
country: Germany
facility: Klinik fuer Dermatologie und Allergologie
city: Salerno
country: Italy
facility: AOU San Giovanni di Dio e Ruggi d'Aragona University of Salerno
city: Verona
country: Italy
facility: Azienda Ospedaliera Universitaria Integrata Verona
city: Toledo
country: Spain
facility: Hospital Virgen del Valle
city: Basel
country: Switzerland
facility: University of Basel
city: Leicester
country: United Kingdom
facility: University Hospital of Leicester
city: London
country: United Kingdom
facility: Guy's and St Thomas' NHS Foundation Trust
city: Plymouth
country: United Kingdom
facility: University Hospitals Plymouth NHS Trust
Study officials:
References: