An observational study in Lymphatic Diseases and Lymphatic Abnormalities, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). Recruiting at 2 sites in United States. Open to participants aged 1 Day to 100 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-10-23.
Sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Observational
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.
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:
Secondary objectives:
Endpoints:
Primary endpoints:
Secondary endpoints:
42 studies on the registry are indexed under Lymphatic Abnormalities; 17 are open to participants now.
This study's planned enrollment of 1,200 is above the median of 56 across 13 observational studies indexed under Lymphatic Abnormalities.
Browse Lymphatic Abnormalities studies →Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) is the lead sponsor of 422 studies on the registry; 24 are open to participants now.
Of its 14 completed or terminated interventional studies of FDA-regulated products, 11 (79%) have results posted.
Compared within Lymphatic Abnormalities, this study's primary condition as ClinicalTrials.gg classifies it; the registry's first condition term is Lymphatic Diseases. The counts are of registry records indexed under each term, refreshed daily. How we classify →
Patients with lymphatic anomalies and their parents.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
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:
Unaffected (First Degree Relatives: Parents and Siblings)
Genetic variants underlying complex lymphatic anomalies can be passed down through parents or be new in a child (de novo). Inclusion of first-degree relatives will assist in genetic analysis to delineate whether the variant is inherited or de novo.
To be eligible to participate as a first degree relative in this study, an individual must be a first-degree family member of an affected participants
EXCLUSION CRITERIA:
Affected Proband
An individual who meets any of the following criteria will be excluded from participation in this study after review of medical history, concomitant medication and allergy review, anthropometrics, and performance status:
-Any condition, in the opinion of the investigator, that would increase risk of participation or impair their ability to comply with protocol requirements.
Lymphatic anomalies that are definitively determined to be secondary by the principal investigator will be excluded from this study. For example, participants who develop a lymphedema after breast cancer surgery.
Unaffected (First Degree Relatives)
-Any condition, in the opinion of the investigator, that would increase risk of participation or impair their ability to comply with protocol requirements.
Siblings or parents of patients.
Patients with lymphatic anomalies.
To establish a longitudinal cohort of participants with lymphatic anomalies
We plan to enroll a group of participants willing to participate in the study over time.
Time frame: 12/31/2028
To longitudinally determine the age at presentation and incidence of clinical features
For each clinical feature or symptoms, the range of ages at the development of that feature/symptom and fraction of participants with that feature
Time frame: 12/31/2028
To establish a longitudinal biospecimen repository
We plan to collect biospecimens including, but not limited to blood and stool from participants over time.
Time frame: 12/31/2028
To determine the best practices for genetic diagnosis based on phenotype
We will analyze diagnostic yields by phenotype (how many participants are able to have a genetic diagnosis in proportion to the number of participants who receive genetic testing) and genetic test methodology (to determine which genetic test is most helpful in diagnosing lymphatic anomalies)
Time frame: 12/31/2028
To determine the malignant potential of anomalies longitudinally
We will track the number of malignancies related to the primary lesion that have developed
Time frame: 12/31/2028
Plan to share: Yes — Investigators will share human data generated in this research for future research as follows:@@@@@@De-identified data in an NIH-funded or approved public repository. @@@@@@De-identified data in another public repository. @@@@@@De-identified data in BTRIS (automatic for activities in the Clinical Center)@@@@@@De-identified or identified data with approved outside collaborators under appropriate agreements.
Supporting information: Clinical study report
Time frame: At the time of publication or shortly thereafter.
Access criteria: Data will be shared through:@@@@@@An NIH-funded or approved public repository: clinicaltrials.gov @@@@@@BTRIS (automatic for activities in the Clinical Center)@@@@@@Approved outside collaborators under appropriate individual agreements.@@@@@@Publication and/or public presentations.@@@@@@This study will comply with the NIH Data Sharing Policy and Policy on the Dissemination of NIH-Funded Clinical Trial Information and the Clinical Trials Registration and Results Information Submission rule. As such, this trial will be registered at ClinicalTrials.gov. In addition, every attempt will be made to publish results in peer-reviewed journals. Data from this study may be requested from other researchers after the completion of the primary endpoint by contacting Sarah Sheppard, PI of the study.
Started Mar 2023 (actual). Primary completion is estimated for Dec 2028, 69 months after the start.
Primary completion moved once since we started tracking on Sep 25, 2026: Dec 2026 → Dec 2028, on Oct 21, 2026.
Earlier changes are on the record history on ClinicalTrials.gov ↗
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) →