Study of Predictive Factors for Clonal Evolution in People With Germline GATA2 Mutation Including Retrospective and Prospective Groups

What this Trial Is About

Researchers are studying a group of 250 people who carry a germline GATA2 mutation to understand factors that predict changes in their blood cell populations over time. This includes both retrospective cases of people who have passed away or lost follow-up and prospective cases of living patients newly or previously identified with this mutation. The study aims to track the timing of specific clinical events related to this mutation over five years. The study involves collecting biological samples such as blood and bone marrow from the prospective participants during routine care visits over five years, with no extra samples taken beyond standard practice. Retrospective participants archived samples will also be analyzed. The study is open-label and conducted across multiple sites, including both retrospective and prospective cohorts. Participants will be monitored through their regular medical care, with sample collection aligned to usual practice schedules. Researchers will measure the time from birth to the onset of various clinical events associated with the mutation, including hematological events and disease progression. Data from both living and deceased patients will be used to understand disease evolution and outcomes over a long-term period.

Study for Characterisation of Predictive Parameters of Clonal Evolution in Subjects With GATA2 Germline Mutation