RecruitingNCT05731141

A Prospective Natural History Study of Lymphatic Anomalies


Sponsor

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Enrollment

1,200 participants

Start Date

Mar 20, 2023

Study Type

OBSERVATIONAL

Conditions

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.


Eligibility

Min Age: 1 DayMax Age: 100 Years

Plain Language Summary

Simplified for easier understanding

Lymphatic anomalies are a group of rare conditions where the lymphatic system — a network of vessels and nodes that move fluid throughout the body and support the immune system — develops abnormally. These disorders range from localized lymphatic malformations to complex, life-threatening conditions involving multiple organs. Because they are so rare, little is known about their genetic causes, natural progression, or best treatments. This study is building a natural history registry to better understand these diseases over time. Anyone of any age — from newborns to 100-year-olds — who has a current or past lymphatic anomaly, symptoms suggesting a lymphatic disorder, an abnormal vascular anomaly with a possible lymphatic component, or a genetic diagnosis known to involve the lymphatic system is eligible to participate. First-degree relatives (parents and siblings) of enrolled patients may also participate to help identify whether genetic changes are inherited or newly occurring. Participants will contribute medical history, genetic testing results, and in some cases biological samples, and will be followed over time with regular assessments. This research is vital because it will create a rich database of genetic and clinical information that researchers can mine for insights — ultimately leading to earlier diagnoses, better understanding of how these diseases progress, and development of targeted treatments for a patient population that has historically had very few options.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Locations(2)

National Institutes of Health Clinical Center

Bethesda, Maryland, United States

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

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NCT05731141


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