Understanding lymphatic anomalies over time
A Prospective Natural History Study of Lymphatic Anomalies
This study is looking to see how lymphatic anomalies change over time in people who have them and their family members, to better understand these conditions and improve future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1200 (estimated) |
| Ages | 1 Day to 100 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 2 sites (Bethesda, Maryland and 1 other locations) |
| Trial ID | NCT05731141 on ClinicalTrials.gov |
What this trial studies
This observational study aims to collect and analyze data on individuals with lymphatic anomalies to better understand the development and long-term outcomes of these conditions. Participants, including those affected and their unaffected family members, will undergo evaluations and provide biological specimens over an extended period. The study seeks to establish a longitudinal cohort, identify clinical features, and explore genetic factors associated with lymphatic diseases. By systematically documenting these anomalies, the research aims to improve prognostication and inform future treatment strategies.
Who should consider this trial
Good fit: Ideal candidates include individuals of any age with a suspected or confirmed lymphatic anomaly, as well as their unaffected parents or siblings aged 7 years or older.
Not a fit: Patients without any lymphatic anomalies or those who do not have first-degree relatives willing to participate may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of lymphatic anomalies, ultimately enhancing patient care.
How similar studies have performed: While there may be limited studies specifically focused on lymphatic anomalies, the approach of establishing a longitudinal cohort has shown promise in other areas of rare disease research.
Eligibility criteria
Show full inclusion / exclusion criteria
* 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.
Where this trial is running
Bethesda, Maryland and 1 other locations
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
- Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States (Not_yet_recruiting)
Study contacts
- Principal investigator: Sarah E Sheppard, M.D. — Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Study coordinator: Andrea I Bowling, C.R.N.P.
- Email: nichd_lymphaticanoma@mail.nih.gov
- Phone: (301) 451-3824
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.