Actively Recruiting
A Prospective Natural History Study of Lymphatic Anomalies
Led by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Updated on 2026-04-24
1200
Participants Needed
2
Research Sites
301 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
A Prospective Natural History Study of Lymphatic Anomalies
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Current or history of lymphatic anomaly or symptoms suggestive of a lymphatic disorder
- An ill-defined vascular anomaly suspected to have an abnormal lymphatic component
- Presence of a pathogenic, likely pathogenic, or variant of uncertain significance in a genetic disorder with a known lymphatic component
- Clinical diagnosis of a syndrome with a known lymphatic component
- First-degree relatives (parents and siblings) of affected participants aged 7 years or older
You will not qualify if you...
- Any condition that increases risk or impairs ability to comply with protocol, as judged by the investigator
- Lymphatic anomalies determined to be secondary (for example, lymphedema after breast cancer surgery)
AI-Screening
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Trial Site Locations
Total: 2 locations
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
2
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
Not Yet Recruiting
Research Team
A
Andrea I Bowling, C.R.N.P.
CONTACT
S
Sarah E Sheppard, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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