This study is currently recruiting participants.
Number
14-H-0127
Sponsoring Institute
National Heart, Lung and Blood Institute (NHLBI)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 2 Years Max Age: 90 Years
Referral Letter Required
No
Population Exclusion(s)
None
Keywords
Lymphangiomatosis; Lymphangiogenesis; Smooth Muscle Cell; Vascular Anomalies; Natural History
Recruitment Keyword(s)
Condition(s)
Lymphangiomatosis; Lymphedema; Lymphangiectasia; Pulmonary Lymphangiectasia
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Heart, Lung and Blood Institute
- 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.
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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.
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.
Principal Investigator
Referral Contact
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