Massive study launches to unravel mysteries of rare lymphatic diseases
NCT ID NCT05731141
First seen Jun 27, 2026 · Last updated Aug 07, 2026 · Updated 5 times
Summary
This natural history study aims to collect data from 1,200 people with lymphatic anomalies—rare conditions affecting the body's lymph system—over many years. Researchers will track symptoms, perform genetic testing, and gather biospecimens to better understand why these conditions develop. The goal is to improve future treatments, not to test a new therapy.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this study could provide crucial insights into how lymphatic anomalies develop and progress, paving the way for better treatments in the future.
- What could go wrong
- This is an observational study, not a treatment trial, so there is no direct benefit to participants. It may take many years to gather enough data to influence clinical practice.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 1,200 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Mar 2023
- Expected to finish
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Dec 2028
An estimate. End dates often move.
- Lead sponsor
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A government research agency
The lead sponsor is the US National Institutes of Health.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Patients with lymphatic anomalies and their parents.
- Ages
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1 day to 100 years
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
* 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 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.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
2 sites. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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Children's Hospital of Philadelphia
NOT_YET_RECRUITINGPhiladelphia, Pennsylvania, 19104, United States
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National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States
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