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

NCT04811365 | Completed

• 1 other identifier: BLU-SM-1101
• Study Type: observational
• Target: 379
• Locations: 8 countries
• Sites: 23

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).

Conditions

Systemic Mast Cell Activation; KIT D816V Mutation

Outcome Measures

Primary Outcomes (1)

• Proportion of patients with KIT D816V mutation in peripheral blood

  Day 1

Secondary Outcomes (2)

• Mean KIT D816V mutated allele fraction in peripheral blood

  Day 1

• Proportion of patients with increased tryptase Alpha/ Beta 1 (TPSAB1) alpha-tryptase gene copy number (GCN) in buccal mucosa

  Day 1

Interventions

Screening OTHER

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

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adult patients with systemic mast cell activation

You may qualify if:

• Presenting with at least one of the three criteria below as evidence of systemic mast cell activation:
• 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.
• Severe anaphylaxis (Ring and Messmer grading ≥II) due to Hymenoptera sting, regardless of serum basal tryptase levels.
• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• Blueprint Medicines Corporation: lead

Study Sites (23)

Clinical Research Center of Alabama

Birmingham, Alabama, 35209, United States

Location

Scripps Clinic Carmel Valley

San Diego, California, 92130, United States

Location

Brigham and Women's Hospital

Boston, Massachusetts, 02115, United States

Location

University of Michigan

Ann Arbor, Michigan, 48105, United States

Location

Mayo Clinic

Rochester, Minnesota, 55905, United States

Location

Roswell Park Cancer Center

Buffalo, New York, 14203, United States

Location

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

New Paltz, New York, 12561, United States

Location

Columbia University Medical Center - Herbert Irving Comprehensive Cancer Center HICCC

New York, New York, 10032, United States

Location

Duke University: Duke Allergy Asthma Airway Center

Durham, North Carolina, 27705, United States

Location

Bernstein Clinical Research Center, LLC

Cincinnati, Ohio, 45236, United States

Location

Antwerp University Hospital UZA

Edegem, 2650, Belgium

Location

Pitié-Salpêtrière Hospital

Paris, 75013, France

Location

CHU Toulouse

Toulouse, 31059, France

Location

Charite Universitatsmedizin Berlin

Berlin, 12203, Germany

Location

Medizinische Hochschule Hannover, Dept. of Dermatology and Allergy

Hanover, 30625, Germany

Location

Klinik fuer Dermatologie und Allergologie

München, 80337, Germany

Location

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

Salerno, 84100, Italy

Location

Azienda Ospedaliera Universitaria Integrata Verona

Verona, 37126, Italy

Location

Hospital Virgen del Valle

Toledo, 45071, Spain

Location

University of Basel

Basel, 4031, Switzerland

Location

University Hospital of Leicester

Leicester, LE1 5WW, United Kingdom

Location

Guy's and St Thomas' NHS Foundation Trust

London, SE1 9RT, United Kingdom

Location

University Hospitals Plymouth NHS Trust

Plymouth, PL6 8DH, United Kingdom

Location

MeSH Terms

Interventions

Mass Screening

Intervention Hierarchy (Ancestors)

Diagnostic Techniques and Procedures; Diagnosis; Health Surveys; Surveys and Questionnaires; Data Collection; Epidemiologic Methods; Investigative Techniques; Diagnostic Services; Preventive Health Services; Health Services; Health Care Facilities Workforce and Services; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health; Public Health Practice

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 10, 2021
• First Posted: March 23, 2021
• Study Start: June 29, 2021
• Primary Completion: March 31, 2023
• Study Completion: March 31, 2023
• Last Updated: April 6, 2023

Record last verified: 2023-04

Locations

IT (2); BE (1); US (10); CH (1); FR (2); ES (1); DE (3); GB (3)