Long-Term Study of Familial Hypereosinophilia FE Tracking Disease Progression and Markers

What this Trial Is About

Eosinophils are a type of white blood cell that can cause damage to the heart, nerves, and other organs when their levels are elevated, as seen in hypereosinophilic syndrome HES. Some people have a hereditary form called familial eosinophilia FE. This research aims to study FE, its genetic causes, damage mechanisms, and disease markers to better understand the disease and support the development of less toxic treatments. Approximately 50 adults and children from a family with FE will be enrolled in this long-term study. Participants will undergo yearly clinical exams including medical history, physical exams, blood tests, EKG, echocardiograms, and pulmonary function tests. Adult participants will also donate bone marrow initially, and some will undergo leukapheresis sessions where blood is processed and returned. Both affected and unaffected family members will provide blood and tissue samples for research to help identify genetic and immunologic factors involved in FE. Throughout the study, participants will be regularly evaluated to monitor the natural history of FE and to identify early signs of disease progression. Researchers will measure immunologic and molecular mechanisms, clinical markers, and any organ damage caused by eosinophilia. Medical care for any needed treatment will be provided by clinical services or local doctors. The study is indefinite in duration, with yearly assessments and additional tests as needed.

A Longitudinal Study of Familial Hypereosinophilia (FE): Natural History and Markers of Disease Progression