LymphangiomatosisNCT02156115
Characterization of the Pathogenesis of Primary and Secondary Lymphatic Disorders
An observational study of Lymphangiomatosis and Lymphedema, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 2 to 90 yearsHealthy volunteers can take part
- Conditions the study is for
- Lymphangiomatosis, Lymphedema, Lymphangiectasia
- How many people
- 14 participants
- Where
- 1 siteUnited States
- Study dates
- 23 Mar 2015to 1 Apr 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 90 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- 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.
- An exclusion criterion for participating in the x-ray portion of the study is pregnancy.
- 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.
- 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.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
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.
Read more
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.
Read the 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 (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.
- Keywords
- Lymphangiomatosis, Lymphangiogenesis, Smooth Muscle Cell, Vascular Anomalies, Natural History
- Medical subject headings
- Lymphedema, Lymphangiectasis, Vascular Malformations
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| healthy volunteers | healthy volunteers | |
| lymphatic patients | lymphatic patients | |
| relatives | relatives |
What is being measured
The primary outcome is the main question the study is designed to answer.
(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.
Measured: ongoing
Secondary outcomes (1)
To assess the contribution of proteins and other genes to the clinical phenotype.
Measured: Undefined
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Jun 2014 (estimated)
- Study start23 Mar 2015
- Primary completion1 Apr 2024
- Study completion1 Apr 2024
Why it stopped: Study closed before total enrollment met.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for LymphangiomatosisStudies of the same condition, open and under way.
- More trials run by National Heart, Lung, and Blood Institute (NHLBI)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 14 participants (actual)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Joel Moss, M.D., Principal investigator, National Heart, Lung, and Blood Institute (NHLBI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02156115
- Sponsor's protocol ID
- 140127
- Other IDs
- 14-H-0127
- Status last verified
- Apr 2024
- First submitted
- 4 Jun 2014
- Last updated
- 11 Apr 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 11 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterization of the Pathogenesis of Primary and Secondary Lymphatic Disorders
- ClinicalTrials.gov ID
- NCT02156115
- Acronym / sponsor ID
- 140127
- Keywords
- Lymphangiomatosis, Lymphangiogenesis, Smooth Muscle Cell, Vascular Anomalies, Natural History
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Study closed before total enrollment met.
- Enrolment
- 14 participants (actual)
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)US National Institutes of Health
- Study start
- 23 Mar 2015 (actual)
- Primary completion
- 1 Apr 2024 (actual)
- Study completion
- 1 Apr 2024 (actual)
- First posted
- 5 Jun 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 (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.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| healthy volunteers | – | –healthy volunteers |
| lymphatic patients | – | –lymphatic patients |
| relatives | – | –relatives |
Who may qualify
- Ages
- 2 to 90 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (4 listed)
Key exclusion criteria (5 listed)
- 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.
- An exclusion criterion for participating in the x-ray portion of the study is pregnancy.
- 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.
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
(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.
Time frame: ongoing
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.
1 secondary outcome
To assess the contribution of proteins and other genes to the clinical phenotype.
Time frame: Undefined
Results and safety
The study was stopped early (reason given: Study closed before total enrollment met.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Apr 2024.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided
Related trials for Lymphangiomatosis
RecruitingObservational study
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Lymphatic Malformation, Generalized Lymphatic Anomaly (GLA)
RecruitingObservational study
Identification of Biomarkers for Patients with Vascular Anomalies
Vascular Anomaly, Generalized Lymphatic Anomaly
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Joel Moss, M.D. principal investigator
National Heart, Lung, and Blood Institute (NHLBI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Lymphangiomatosis and Lymphedema, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 11 Apr 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: Study closed before total enrollment met.). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
(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. (time frame: ongoing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Apr 2024; AzTrials last refreshed its copy on 7 Nov 2026.