Lymphatic Malformations: Genetics, Mechanisms and Therapeutic Strategies.
Taija Mäkinen, Laurence M Boon, Miikka Vikkula...
https://pubmed.ncbi.nlm.nih.gov/34166072Actively Recruiting
Age: 1Day - 100Years
All Genders
Healthy Volunteers
ID05731141
A Prospective Natural History Study of Lymphatic Anomalies
Led by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Updated on 2026-04-24
1200
Participants Needed
2
Research Sites
104 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are conducting a natural history study to better understand lymphatic anomalies, which are disorders affecting the network of vessels that carry lymph fluid through the body. These anomalies can cause pain, fluid buildup, and immune problems. The study aims to improve knowledge about why these conditions develop and to support future treatment advances by collecting detailed data over time from many participants. The study includes people of all ages with suspected or confirmed lymphatic anomalies, as well as their unaffected parents or siblings aged 7 years or older. Participants may have evaluations every 10 months to 2 years and can be seen either via telemedicine or in person at the NIH Clinical Center for 2 to 5 days. During visits, physical exams and various specimen collections like blood, saliva, hair, stool, skin, and other tissues will be done. Some participants will also have heart tests, lung function tests, photographs, imaging scans including bone density measurements, and special scans that track lymph fluid movement under anesthesia. Participants will be closely monitored with physical exams and various tests depending on their condition. The study collects genetic and clinical data to understand disease progression, clinical features, and outcomes. The research team tracks the number and types of lymphatic anomalies, the age when symptoms appear, and any malignant changes. Participants may stay in the study indefinitely to provide long-term data, supporting improved diagnosis, monitoring, and treatment guidelines for lymphatic anomalies.
CONDITIONS
Brief Title
A Prospective Natural History Study of Lymphatic Anomalies
Who Can Participate
Age: 1Day - 100Years
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Current or past lymphatic anomaly or symptoms suggestive of lymphatic disorder
- Presence of an ill-defined vascular anomaly suspected to have an abnormal lymphatic component
- Genetic disorder with pathogenic, likely pathogenic, or uncertain variant related to lymphatic component
- Clinical diagnosis of a syndrome known to affect the lymphatic system
- First-degree relatives (parents or siblings) of affected participants aged 7 years or older
You will not qualify if you...
- Any condition that increases risk or impairs ability to follow study requirements, as judged by the investigator
- Lymphatic anomalies determined to be secondary, such as lymphedema after breast cancer surgery
- For unaffected relatives, any condition that increases risk or impairs ability to comply with study procedures
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Long-term Monitoring
Duration - Up to 5 years
Participants with lymphatic anomalies and their first-degree relatives are observed over time to evaluate disease features, outcomes, and genetic diagnosis practices.
Periodic visits over the study duration
Trial Site Locations
Total: 2 locations
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
2
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
Not Yet Recruiting
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Research Team
A
Andrea I Bowling, C.R.N.P.
S
Sarah E Sheppard, M.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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Published Research Related To This Trial
Primary lymphoedema.
Pascal Brouillard, Marlys H Witte, Robert P Erickson...
https://pubmed.ncbi.nlm.nih.gov/34675250Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly.
Mandi Liu, Christopher L Smith, David M Biko...
https://pubmed.ncbi.nlm.nih.gov/35606495