Recruiting

Observational Study

Sponsor:

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

Code:

NCT05731141

Conditions

Lymphatic Diseases

Lymphatic Abnormalities

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

Study Details

Brief 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.

Conditions

Lymphatic Diseases

Lymphatic Abnormalities

Study ID

NCT05731141

Start date

Mar 20, 2023

Status verified date

Aug 4, 2026

Completion date

Dec 31, 2028

Anticipated

Primary completion date

Dec 31, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

  • 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.

Study Design

Enrollment

1200 participants

Anticipated

Interventions and Outcome Measures

Arms

First Degree Relatives

Siblings or parents of patients.

Patients

Patients with lymphatic anomalies.

Primary outcome measure

  • To establish a longitudinal cohort of participants with lymphatic anomalies [ Time Frame: 12/31/2028 ]
  • To longitudinally determine the age at presentation and incidence of clinical features [ Time Frame: 12/31/2028 ]

Central Contacts and Locations

Central contacts

Andrea I Bowling, C.R.N.P.

(301) 451-3824nichd_lymphaticanoma@mail.nih.gov

Sarah E Sheppard, M.D.

(240) 578-5047sarah.sheppard@nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

NIH Clinical Center Office of Patient Recruitment (OPR)

800-411-1222ccopr@nih.gov

More Information

Sponsor

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

Last update posted

Aug 6, 2026

Last verified

Aug 4, 2026

Keywords

  • Protein Losing Enteropathy
  • Lymphedema
  • Lymphangiectasia
  • Kaposiform Lymphangiomatosis
  • Gorham Stout Disease
  • Generalized Lymphatic Anomaly
  • Complex Lymphatic Anomaly
  • Chylous Effusion
  • Chylous Ascites
  • Central Conducting Lymphatic Anomaly

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) on 2026-08-06.