Characterization of the Pathogenesis of Primary and Secondary Lymphatic Disorders

NCT02156115 | Terminated

• 2 other identifiers: 14012714-H-0127
• Study Type: observational
• Target: 14
• Locations: 1 country
• Sites: 1

Brief Summary

Background: \- Lymphatics are a type of vessel, similar to arteries and veins. Lymphatic disorders happen when these vessels don t work properly. Researchers want to look for a relationship between lymphatic disorders and variations of certain genes found in the lung, blood, and other places in the body. Objective: \- To learn more about lymphatic disorders and evaluate how genetic factors affect lymphatic disorders. Eligibility:

• People ages 2 90 who have a lymphatic disorder or relatives of people with lymphatic disorders.
• Healthy volunteers 18 and older. Design:
• Participants may have 1 2 visits a year, or more as needed. The study is expected to last 5 years. Visits may last 1 5 days. Participants may have lab tests, medical history, and physical exam at each visit.
• Participants may have blood testing that includes genetics tests, and urine tests. They may have nose and throat cultures, saliva collection, and cheek swabs to collect samples.
• Participants may have a skin biopsy and have blood taken from an artery.
• Participants may have breathing tests and be studied while exercising.
• Participants may have an electrocardiogram. Electrodes will be placed on their chest, tracing heart rhythms. They may also have chest X-rays.
• Participants may have a bronchoscopy. A thin, flexible instrument will be passed through the nose or mouth, into the lung. A tissue sample will be taken.
• Participants who have lymphatic disease or have a relative with it may also have:
• CT scans. They will lie on a table and hold their breath while their chest is scanned.
• MRI. They will lie flat on a table that slides in and out of a scanner.
• ultrasound. A probe is rolled around outside the abdomen.
• removal of fluid around the lungs, chest, and abdomen.

Conditions

Lymphangiomatosis; Lymphedema; Lymphangiectasia; Pulmonary Lymphangiectasia

Keywords

Lymphangiomatosis; Lymphangiogenesis; Smooth Muscle Cell; Vascular Anomalies; Natural History

Outcome Measures

Primary Outcomes (1)

• (a) define the natural history of lymphatic diseases, (b) characterize the clinical phenotypes, and (c) elucidate their pathogenesis at the physiological, cellular and molecular levels.

  To define the clinical phenotype of the lymphatic disorder.To define the molecular basis of the lymphatic disorders.This knowledge will help in improving our understanding of lymphatic proliferation in normal conditions as well as in disease.

  ongoing

Secondary Outcomes (1)

• To assess the contribution of proteins and other genes to the clinical phenotype.

  Undefined

Study Arms (3)

healthy volunteers

healthy volunteers

lymphatic patients

lymphatic patients

relatives

relatives

Eligibility Criteria

• Age: 2 Years - 90 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study population will include any individual 2 years of age or older with definite or probable diagnosis of a lymphatic disorder and age, race and sex matched healthy volunteers as a control group for patients 18 years of age and above. Relatives of individuals with lymphatic disorders are also eligible for participation.

You may qualify if:

• Patients 2 years of age or older with clinical or histological evidence for a lymphatic abnormality; patients will in the vast majority of cases be referred with the diagnosis of a lymphatic disorder.
• Patients 2 years of age or older with findings on physical examination consistent with the diagnosis of a lymphatic abnormality.
• Relatives of patients with lymphatic disorders, 2 years of age or older.
• Healthy research volunteers 18 years of age or older as control subjects.

You may not qualify if:

• Patients who are less than 2 years of age. Research volunteers less than 18 years of age. Age greater than 90 years old.
• Advanced stage of any systemic illness.

Sponsors & Collaborators

• National Heart, Lung, and Blood Institute (NHLBI): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Lymphedema; Lymphangiectasis; Vascular Malformations

Condition Hierarchy (Ancestors)

Lymphatic Diseases; Hemic and Lymphatic Diseases; Cardiovascular Abnormalities; Cardiovascular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Joel Moss, M.D.

  National Heart, Lung, and Blood Institute (NHLBI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 4, 2014
• First Posted: June 5, 2014
• Study Start: March 23, 2015
• Primary Completion: April 1, 2024
• Study Completion: April 1, 2024
• Last Updated: April 11, 2024

Record last verified: 2024-04

Locations

US (1)