A Prospective Natural History Study of Lymphatic Anomalies
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age1-100
SponsorEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
About this trial
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.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
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
Disqualifiers
None
Trial population
Patients with lymphatic anomalies and their parents.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
1,200 Participants
are grouped into 2 trial groupsGroup A: First Degree Relatives
Group B: Patients
Trial outcomes
Primary outcomes
1
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.
Time frame
12/31/20282
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
Time frame
12/31/2028Secondary outcomes
1
To establish a longitudinal biospecimen repository
We plan to collect biospecimens including, but not limited to blood and stool from participants over time.
Time frame
12/31/20282
To determine the best practices for genetic diagnosis based on phenotype
We will analyze diagnostic yields by phenotype (how many participants are able to have a genetic diagnosis in proportion to the number of participants who receive genetic testing) and genetic test methodology (to determine which genetic test is most helpful in diagnosing lymphatic anomalies)
Time frame
12/31/20283
To determine the malignant potential of anomalies longitudinally
We will track the number of malignancies related to the primary lesion that have developed
Time frame
12/31/2028Sponsors and contacts
Click on the lead sponsor to view all of their trials.
Source ClinicalTrials.gov