Protocol Number: 04-HG-0211

Title:

Specimen Procurement from Individuals with Pulmonary Fibrosis

Number:

04-HG-0211

Summary:

This study will collect tissue specimens from healthy subjects and from patients with hereditary forms of pulmonary fibrosis (lung scarring) to learn about substances in the blood, urine, or lung that might change as a result of this disease. Cells and fluid from the blood, urine, and lung will be analyzed for measurements of genetic material and proteins.

Healthy volunteers, patients with Hermansky-Pudlak syndrome or familial pulmonary fibrosis, and relatives of patients with hereditary pulmonary fibrosis who are 18 years of age or older may be eligible for this study.

Participants are admitted to the hospital for 3 to 7 days for the following tests and procedures:

-Blood and urine tests, including blood tests for hepatitis B, hepatitis C, and HIV. No more than 250 milliliters (about 1 cup) of blood is drawn.

-Electrocardiogram (EKG) to examine heart function.

-Chest x-ray and computed tomography (CT) scan of the chest. CT scanning combines x-rays and computers to show the location, nature, and extent of diseases or abnormalities inside the body. It can be done from different angles to provide three-dimensional pictures of the part of the body being studied and allows the doctor to view body organs in small sections. The subject lies on a table in the scanner for the imaging test.

-Arterial blood gases. Blood is drawn from a small needle placed in an artery in the forearm while the subject is resting and immediately after exercising.

-Pulmonary function (breathing) tests. To measure lung function, the subject breathes deeply and holds the breath. A medication called albuterol may be given to dilate the airways.

-Exercise test. The subject rides a stationary bicycle or walks briskly on a treadmill while heart and lung function are measured. Arterial blood gases are measured at the end of the test.

-Fiberoptic bronchoscopy with lavage (washing) and bronchial brushing. Subjects undergo these tests to collect fluid and cells from the lungs.

Subjects undergo these tests to determine their level of lung inflammation. Before the procedures begin, the subject's mouth, nose and throat are numbed with an anesthetic. Drugs are given to reduce mouth secretions, coughing and wheezing. A pain reliever and sedative may also be given. A thin tube (bronchoscope) is passed through the nose or mouth into the bronchi (large breathing tubes) of the lungs. A salt-water solution is infused and then suctioned out. A small brush may be passed through the tube to brush an area of the airway wall to collect some cells. Then the bronchoscope is removed and the procedure is finished. Oxygen is administered and an EKG monitors heart function throughout the procedure. The procedure takes 20 to 40 minutes. Patients are observed overnight in the hospital. Patients with Hermansky-Pudlak syndrome may receive the drug desmopressin before the procedure to reduce the chance of bleeding.

-Lung biopsy. Healthy subjects do not undergo this surgical procedure. It may be done in some patients to establish a diagnosis. A small amount of lung tissue is removed for diagnostic and pathologic tests. Patients with Hermansky-Pudlak syndrome may receive desmopressin or a platelet transfusion, or both, before the procedure to reduce the chance of bleeding.

-Genetic evaluation. A blood sample is drawn to obtain DNA for testing to look for genes related to the development of pulmonary fibrosis or excessive scarring.

Sponsoring Institute:

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): Children

Eligibility Criteria:

INCLUSION CRITERIA:

Individuals who are 18 years of age or older with any of the following:

Idiopathic pulmonary fibrosis (defined by either an open lung biopsy demonstrating pulmonary fibrosis and/or HRCT scan findings consistent with idiopathic pulmonary fibrosis as outlined by the American Thoracic Society/European Respiratory Society guidelines),

Familial pulmonary fibrosis (defined as idiopathic pulmonary fibrosis in two or more first-degree relatives)

Relatives of patients with hereditary pulmonary fibrosis,

Hermansky-Pudlak syndrome (diagnosed by paucity or deficiency of platelet dense bodies on whole mount electron microscopy),

Pulmonary fibrosis associated with rheumatoid arthritis [defined by 1987 American College of Rheumatology Revised Criteria for the Classification of RA], or

Healthy research volunteers by history and indicated tests (individuals without history of chronic pulmonary disorder, collagen vascular disease, or bleeding disorder).

EXCLUSION CRITERIA:

Individuals with any of the following:

Significant Inhalational exposure to fibrogenic fibers or dusts (i.e., asbestos, silica, coal, beryllium) or exposure to drugs associated with pulmonary fibrosis,

Uncontrolled ischemic heart disease,

Other collagen vascular disorders (i.e. systemic lupus erythematosus, scleroderma, polymyositis, mixed connective tissue disease),

Uncontrolled ischemic heart disease

Other collagen vascular disorders (i.e., systemic lupus erythematosus, scleroderma, polymyositis, mixed connective tissue disease)

Uncorrectable bleeding diathesis,

Pregnancy or lactation, or

Inability to give informed consent.

Special Instructions:

Currently Not Provided

Keywords:

Bronchoscopy

Pulmonary Fibrosis

Lung Biopsy (Clinically-Indicated)

Recruitment Keyword(s):

Hereditary Pulmonary Fibrosis

Healthy Volunteer

HV

Condition(s):

Pulmonary Fibrosis

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Human Genome Research Institute

Contact(s):

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):

Gahl WA, et al. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med. 1998 Apr 30;338(18):1258-64.

Harmon KR, et al. Pathogenesis of pulmonary fibrosis: platelet-derived growth factor precedes structural alterations in the Hermansky-Pudlak syndrome. J Lab Clin Med. 1994 Apr;123(4):617-27.

Shotelersuk V, Gahl WA. Hermansky-Pudlak syndrome: models for intracellular vesicle formation. Mol Genet Metab. 1998 Oct;65(2):85-96.

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