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Completed

NCT Number: NCT04811365

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

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).

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Key information

Conditions

Systemic Mast Cell Activation KIT D816V Mutation

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Antwerp University Hospital UZA, Edegem, Belgium

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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.

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

Treatment and study plan

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

Primary outcomes

  1. Proportion of patients with KIT D816V mutation in peripheral blood

    Time frame: Day 1

Secondary outcomes

  1. Mean KIT D816V mutated allele fraction in peripheral blood

    Time frame: Day 1

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

    Time frame: Day 1

Sponsors and collaborators

Lead sponsor

Blueprint Medicines Corporation

Industry

Registry information

Official study title

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

Important dates

Study start
2021
Primary completion
2023
Study completion
2023
First posted
Mar 23, 2021
Registry last updated
Apr 6, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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