Lymphangiectasia clinical trials

Characterization of the Pathogenesis of Primary and Secondary Lymphatic Disorders

Background: - Lymphatics are a type of vessel, similar to arteries and veins. Lymphatic disorders happen when these vessels don t work properly. Researchers want to look for a relationship between lymphatic disorders and variations of certain genes found in the lung, blood, and other places in the body. Objective: - To learn more about lymphatic disorders and evaluate how genetic factors affect lymphatic disorders. Eligibility: - People ages 2 90 who have a lymphatic disorder or relatives of people with lymphatic disorders. - Healthy volunteers 18 and older. Design: - Participants may have 1 2 visits a year, or more as needed. The study is expected to last 5 years. Visits may last 1 5 days. Participants may have lab tests, medical history, and physical exam at each visit. - Participants may have blood testing that includes genetics tests, and urine tests. They may have nose and throat cultures, saliva collection, and cheek swabs to collect samples. - Participants may have a skin biopsy and have blood taken from an artery. - Participants may have breathing tests and be studied while exercising. - Participants may have an electrocardiogram. Electrodes will be placed on their chest, tracing heart rhythms. They may also have chest X-rays. - Participants may have a bronchoscopy. A thin, flexible instrument will be passed through the nose or mouth, into the lung. A tissue sample will be taken. - Participants who have lymphatic disease or have a relative with it may also have: - CT scans. They will lie on a table and hold their breath while their chest is scanned. - MRI. They will lie flat on a table that slides in and out of a scanner. - ultrasound. A probe is rolled around outside the abdomen. - removal of fluid around the lungs, chest, and abdomen.