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Characterization of the Pathogenesis of Primary and Secondary Lymphatic Disorders

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ClinicalTrials.gov Identifier: NCT02156115
Recruitment Status : Recruiting
First Posted : June 5, 2014
Last Update Posted : April 11, 2019
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) )

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.

Condition or disease
Lymphangiomatosis Lymphedema Lymphangiectasia Pulmonary Lymphangiectasia

Detailed Description:

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 (Copyright) 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.


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Study Type : Observational
Estimated Enrollment : 300 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Characterization of the Pathogenesis of Primary and Secondary Lymphatic Disorders
Actual Study Start Date : March 23, 2015
Estimated Primary Completion Date : December 1, 2021
Estimated Study Completion Date : December 1, 2021


Group/Cohort
healthy volunteers
healthy volunteers
relatives
relatives
ymphatic patients
lymphatic patients



Primary Outcome Measures :
  1. To define the clinical phenotype of the lymphatic disorder [ Time Frame: undefined ]
    To define the clinical phenotype of the lymphatic disorder.2.To define the molecular basis of the lymphatic disorders.Thisknowledge will help in improving our understanding of lymphatic proliferation in normal conditions as well as in disease.

  2. To define the molecular basis of the lymphatic disorders.Thisknowledge will help in improving our understanding of lymphatic proliferation in normal conditions as well as in disease. [ Time Frame: undefined ]
    To define the clinical phenotype of the lymphatic disorder.2.To define the molecular basis of the lymphatic disorders.Thisknowledge will help in improving our understanding of lymphatic proliferation in normal conditions as well as in disease.


Secondary Outcome Measures :
  1. To assess the contribution of proteins and other genes to the clinical phenotype. [ Time Frame: undefined ]


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   2 Years to 90 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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.
Criteria
  • 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.
  4. Exclusion criteria for participating in the bronchoscopy portion of the study are: (1) presence of any contraindication for fiberoptic bronchoscopy, with lavage and/or bronchial brushing; (2) advanced stage of a pulmonary or a systemic illness such that the risk is judged to be significant even in the absence of a specific contraindication to the procedure; (3) allergy to topical anesthetic (e. g., lidocaine); (4) current or recent respiratory infection (within the last 4 weeks); (5) pregnancy or lactation; (6) age less than 18 or greater than 65.
  5. Exclusion criteria for participating in the endoscopy portion of the study are: (1) Any medical, psychiatric, or social conditions which, in the opinion of the investigators, would make participation in this protocol not in the best interest of the patient; (2) have a history of surgical removal of a portion or all of the colon if it is believed to increase risk; (3) are pregnant; (4) have had radiation to the abdomen or pelvis; (5) have poor heart or lung function that would make sedation too risky; (6) have allergy or other contraindications to midazolam or fentanyl; (7) are unable to tolerate preparation for the procedure; (8) are unable to give consent; (9) have had abdominal surgery within eight weeks; (10) are taking anticoagulant therapy that cannot be interrupted; (11) have had diverticulitis or an abdominal abscess within eight weeks.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02156115


Contacts
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Contact: Tania R Machado (301) 496-3632 tania.machado@nih.gov
Contact: Joel Moss, M.D. (301) 496-1597 mossj@nhlbi.nih.gov

Locations
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United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)    800-411-1222 ext TTY8664111010    prpl@cc.nih.gov   
Sponsors and Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
Investigators
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Principal Investigator: Joel Moss, M.D. National Heart, Lung, and Blood Institute (NHLBI)

Additional Information:
Publications:
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Responsible Party: National Heart, Lung, and Blood Institute (NHLBI)
ClinicalTrials.gov Identifier: NCT02156115     History of Changes
Other Study ID Numbers: 140127
14-H-0127
First Posted: June 5, 2014    Key Record Dates
Last Update Posted: April 11, 2019
Last Verified: January 31, 2019
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) ):
Lymphangiomatosis
Lymphangiogenesis
Smooth Muscle Cell
Vascular Anomalies
Additional relevant MeSH terms:
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Lymphedema
Lymphatic Diseases
Lymphangiectasis