A Prospective Natural History Study of Lymphatic Anomalies
2 other identifiers
observational
1,200
1 country
2
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Mar 2023
Longer than P75 for all trials
2 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
February 15, 2023
CompletedFirst Posted
Study publicly available on registry
February 16, 2023
CompletedStudy Start
First participant enrolled
March 20, 2023
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 31, 2026
ExpectedStudy Completion
Last participant's last visit for all outcomes
December 31, 2028
April 24, 2026
April 20, 2026
3.8 years
February 15, 2023
April 23, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (2)
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.
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
12/31/2028
Secondary Outcomes (3)
To establish a longitudinal biospecimen repository
12/31/2028
To determine the best practices for genetic diagnosis based on phenotype
12/31/2028
To determine the malignant potential of anomalies longitudinally
12/31/2028
Study Arms (2)
First Degree Relatives
Siblings or parents of patients.
Patients
Patients with lymphatic anomalies.
Eligibility Criteria
Patients with lymphatic anomalies and their parents.
You may qualify if:
- 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)
- 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
You may not qualify if:
- 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.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (2)
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104, United States
Related Publications (3)
Makinen T, Boon LM, Vikkula M, Alitalo K. Lymphatic Malformations: Genetics, Mechanisms and Therapeutic Strategies. Circ Res. 2021 Jun 25;129(1):136-154. doi: 10.1161/CIRCRESAHA.121.318142. Epub 2021 Jun 24.
PMID: 34166072BACKGROUNDBrouillard P, Witte MH, Erickson RP, Damstra RJ, Becker C, Quere I, Vikkula M. Primary lymphoedema. Nat Rev Dis Primers. 2021 Oct 21;7(1):77. doi: 10.1038/s41572-021-00309-7.
PMID: 34675250BACKGROUNDLiu M, Smith CL, Biko DM, Li D, Pinto E, O'Connor N, Skraban C, Zackai EH, Hakonarson H, Dori Y, Sheppard SE. Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly. Eur J Hum Genet. 2022 Sep;30(9):1022-1028. doi: 10.1038/s41431-022-01123-9. Epub 2022 May 24.
PMID: 35606495BACKGROUND
Related Links
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Sarah E Sheppard, M.D.
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- NIH
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
February 15, 2023
First Posted
February 16, 2023
Study Start
March 20, 2023
Primary Completion (Estimated)
December 31, 2026
Study Completion (Estimated)
December 31, 2028
Last Updated
April 24, 2026
Record last verified: 2026-04-20
Data Sharing
- IPD Sharing
- Will share
- Shared Documents
- CSR
- 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.
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.