Long-Term Study to Understand Lymphatic Anomalies and Their Effects Including Patients and Their Close Family Members

What this Trial Is About

Researchers are conducting a natural history study focused on lymphatic anomalies, which are conditions affecting the network of vessels that carry lymph fluid through the body. These anomalies can cause pain, fluid buildup, and immune system issues. The study aims to better understand why these anomalies develop by collecting detailed data over a long period from many participants, including affected individuals and their unaffected family members. The research will help improve future treatment approaches and establish guidelines for diagnosis and monitoring. Participants include people of all ages with suspected or confirmed lymphatic anomalies, as well as their unaffected parents or siblings aged 7 years or older. The study involves evaluations approximately every 10 months to 2 years, either through telemedicine or at the NIH Clinical Center for stays of 2 to 5 days. During visits, participants undergo physical exams and may provide various biological samples such as blood, saliva, hair follicles, stool, skin, and other tissues for genetic testing. Additional tests may include heart monitoring, lung function tests, photography of physical features, imaging scans including bone density measurement, and specialized lymphatic scans requiring anesthesia and dye injection. Participants involvement includes regular medical assessments, sample collections, and imaging procedures to track disease progression and clinical features over time. The study will gather data to establish a cohort, understand the age and incidence of symptoms, and collect specimens for genetic analysis. Researchers will also explore the malignant potential of anomalies and develop best practices for diagnosis. Participation may continue indefinitely, with ongoing monitoring and evaluations to support long-term understanding of lymphatic anomalies.

A Prospective Natural History Study of Lymphatic Anomalies