Multicenter Screening Study to Detect KIT D816V Mutation in Adults with Suspected Clonal Mast Cell Disease

What this Trial Is About

Researchers are conducting a multicenter screening study to identify the prevalence of the KIT D816V mutation in adults suspected of having clonal mast cell disease. The study focuses on people with various symptoms and conditions linked to mast cell activation or involvement, including those with chronic myelomonocytic leukemia and cutaneous mast cell disease. The purpose is to better understand mutation occurrence in these select populations. Participants are grouped into four cohorts based on their symptoms or confirmed diagnoses. The study involves collecting blood or bone marrow samples after participants provide consent and share relevant medical history. The main assessments include measuring the KIT D816V mutation in peripheral blood using digital droplet polymerase chain reaction and an ultra-sensitive super rolling circle amplification assay. No treatments or drugs are given as this is an observational screening study. During the study, participants will provide samples and information about their health. Researchers will analyze these samples to determine mutation presence and frequency. The study aims to collect data on mutation prevalence for each cohort on the first day of participation. The overall study period extends until October 2028, with outcomes primarily measured early after enrollment. Participants usual healthcare is not altered by this study.

Screening Study for KIT D816V Mutated Mast Cell Disease in Select Populations