Characterization of the Pathogenesis of Primary and Secondary Lymphatic Disorders

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

TERMINATED

Total Enrollment

14 participants

Study Classification

OBSERVATIONAL

Study Start Date

2015-03-23

Study Completion Date

2024-04-01

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Development of a Clinical Screening, Diagnostic and Evaluation Tool for Patients With Lower Limb Lymphedema: Aim 2

NCT05421377

Lower Limb Lymphedema

RECRUITING

Detecting Circulating Emboli in Patients with Acute Venous Thromboembolism

NCT02735759

Venous Thromboembolism

WITHDRAWN NA

Exploratory Metabolomics Study of Exhaled Breath in Pulmonary Embolism

NCT04001179

Pulmonary Embolism

TERMINATED

The Coagulation Cascade in Idiopathic Pulmonary Fibrosis

NCT02885961

Idiopathic Pulmonary Fibrosis IPF Interstitial Lung Disease

UNKNOWN NA

Early Detection of Lymphedema After Cancer Treatments

NCT02415725

Lymphadenectomy Breast Cancer

UNKNOWN NA

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Disorders of lymphatic function are associated with multiple presentations, the most common of which is lymphedema, a chronic swelling of the extremities, due to impaired lymphatic drainage. It can cause disability and a predisposition to infection and chronic ulceration. Other lymphatic disorders present with visceral manifestations such as regional or systemic lymphangiomatosis, pulmonary and intestinal lymphangiectasia, protein-losing enteropathy, chylous ascites, and chylothorax. Abnormalities of smooth muscle cell proliferation are associated with lymphangiomatosis. Proliferation of a neoplastic cell, the LAM cell, which exhibits a smooth muscle cell phenotype, is associated with lymphangioleiomyomatosis. Currently, treatment for many of these disorders is symptomatic and the prognosis is variable.

The molecular mechanisms of lymphatic vasculogenesis are incompletely understood, but critical genes have been described, and mutations in these genes may lead to developmental abnormalities. There may be a genetic predisposition to lymphatic disorders, with a role for modifier genes in disease progression. The purpose of this study is to (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. This protocol is part of a Trans-Institute basic, translational and clinical initiative in lymphatic disorders and will include participation of principal investigators across the NIH, as well as extramural investigators.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Lymphangiomatosis Lymphedema Lymphangiectasia Pulmonary Lymphangiectasia

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

FAMILY_BASED

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

healthy volunteers

No interventions assigned to this group

lymphatic patients

No interventions assigned to this group

relatives

No interventions assigned to this group

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

1. 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.
2. Patients 2 years of age or older with findings on physical examination consistent with the diagnosis of a lymphatic abnormality.
3. Relatives of patients with lymphatic disorders, 2 years of age or older.
4. Healthy research volunteers 18 years of age or older as control subjects.

Exclusion Criteria

1. Patients who are less than 2 years of age. Research volunteers less than 18 years of age. Age greater than 90 years old.
2. Advanced stage of any systemic illness.
3. An exclusion criterion for participating in the x-ray portion of the study is pregnancy.

Minimum Eligible Age

2 Years

Maximum Eligible Age

90 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes