A Prospective Natural History Study of Lymphatic Anomalies
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Summary
Background: The lymphatic system is a network of vessels that carry a clear fluid called lymph through the body. Problems in the lymphatic system can cause pain, fluid buildup, and issues with immunity. There is much researchers do not understand about lymphatic anomalies. In this natural history study, they will collect data from a lot of people over a long time. Objective: To better understand why lymphatic anomalies develop. The goal is to improve future treatments. Eligibility: People aged 0 days and older with a suspected or confirmed lymphatic anomaly. Their unaffected parents or siblings aged 7 years or older are also needed. Design: Participants may remain in the study indefinitely. Affected participants may be evaluated every 10 months to 2 years. Some participants will be seen over telemedicine. Others will be seen at the NIH Clinical Center for 2-5 days. All participants will have a physical exam. They may provide specimens including blood, saliva, hair follicles, stool, skin, and other tissues. Samples may be used for genetic testing. Participants may undergo other tests depending on their medical conditions. The NIH Clinical Center visit may include: Heart tests include placing stickers on the chest to measure electrical activity and using sound waves to capture pictures of the heart. A lung test measures the muscle strength in the chest. Participants will blow into a tube. Photographs may be taken of participants faces and other features. Imaging scans will take pictures of the inside of the body. One scan will measure bone density. One type of scan tracks how lymph fluid moves through the body. Participants will be under anesthesia, and they will be injected with a dye.
Description
Study Description: A natural history study for lymphatic anomalies to systematically evaluate the disease phenotypes and long-term outcomes to provide improved prognostication to families, establish screening/monitoring guidelines, determine best practices for genetic diagnosis, explore family opinions, and explore fertility for those on long term medication management. This study will allow us to identify novel end points for future clinical trials. Objectives: Primary objectives: * To establish a longitudinal cohort of participants with lymphatic anomalies * To longitudinally determine t…
Eligibility
- Age range
- 0–100 years
- Sex
- All
- Healthy volunteers
- Yes
* INCLUSION CRITERIA: Affected (Proband) In order to be eligible to participate in this study, an individual must meet one of the following criteria as determined after review of medical history: * Current or history of lymphatic anomaly or symptoms suggestive of a lymphatic disorder Or * An ill-defined vascular anomaly that is suspected to have an abnormal lymphatic component Or * A pathogenic, likely pathogenic, or VUS in a genetic disorder with a known lymphatic component Or * Clinical diagnosis of a syndrome with a known lymphatic component Unaffected (First Degree Relatives: Parents a…
Locations (2)
- National Institutes of Health Clinical CenterBethesda, Maryland
- Children's Hospital of PhiladelphiaPhiladelphia, Pennsylvania