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Sponsored by: |
National Heart, Lung, and Blood Institute (NHLBI) |
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Information provided by: | National Institutes of Health Clinical Center (CC) |
ClinicalTrials.gov Identifier: | NCT00001532 |
This study is designed to evaluate the genetics involved in the development of lung disease by surveying genes involved in the process of breathing and examining the genes in lung cells of patients with lung disease.
The study will focus on defining the distribution of abnormal genes responsible for processes directly involved in different diseases affecting the lungs of patients and healthy volunteers.
Condition |
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Cystic Fibrosis Sarcoidosis Tuberous Sclerosis Asthma |
Study Type: | Observational |
Official Title: | Role of Genetic Factors in the Pathogenesis of Lung Disease |
Estimated Enrollment: | 2500 |
Study Start Date: | June 1996 |
This study is designed to evaluate genetic mechanisms of lung disease by surveying polymorphic genes involved in respiratory function and examining gene expression in the lung cells of individuals with pulmonary disease (e.g., alpha 1-antitrypsin deficiency, asthma, chronic obstructive pulmonary disease, cystic fibrosis, sarcoidosis, history of infection, and genetic mutations consistent with lung pathology). Emphasis will be on defining the distribution of allelic variants of nitric oxide synthase, alpha 1-antitrypsin, and the cystic fibrosis transmembrane conductance regulator genes in patients and in age- and sex-matched healthy individuals in a control population.
Ages Eligible for Study: | 18 Years to 80 Years |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | Yes |
Inclusion criteria for patients with AAT deficiency include: (1) Diagnosis of AAT with a confirmed phenotype considered in the high risk category; (2) Clinical phenotype consistent with potential genetic diseases and other genetic causes of lung diseases (3) symptoms consistent with pulmonary disease; (4) chest x-ray consistent with pulmonary disease; (5) pulmonary function tests consistent with pulmonary disease; (6) smokers, defined as individuals who are current smokers (1 pack per day for at least 2 years) and nonsmokers, defined as never-smokers or ex-smokers who have quit smoking three or more years ago;
Inclusion criteria for individuals with chronic obstructive pulmonary diseases include: (1) symptoms consistent with pulmonary disease; (2) chest x-ray consistent with pulmonary disease; (3) pulmonary function tests consistent with pulmonary disease; (4) smokers, defined as individuals who are current smokers (1 pack per day for at least 2 years) and nonsmokers, defined as never-smokers or ex-smokers who have not smoked for three or more years.
Inclusion criteria for patients with cystic fibrosis include a defined genetic mutation (i.e., any of the known variants of the CFTR gene, such as delta F508 allele) or a cystic fibrosis phenotype and clinical features consistent with this disease. Children with cystic fibrosis over eight years of age may be included.
Patients with established diagnoses of sarcoidosis; mycobacterial infections; TSC; cystic lung disease including genetic diseases; lymphangioleiomyomatosis or diseases associated with lymphatic disorders; history of pneumothorax; pulmonary fibrosis; asthma; histiocytosis X and diabetes mellitus will be included in this protocol.
Research volunteers in the pulmonary control group are defined as individuals with no pulmonary disease (e.g. rheumatoid arthritis without evidence of pulmonary disease). Research volunteers in the diabetes control group are defined as individuals with no history of diabetes, coronary artery disease, or pulmonary disease.
Because radiation exposure is not required, pregnant women are not excluded from the study.
EXCLUSION CRITERIA:
Exclusion criteria for all participants include:
Exclusion criteria 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.
Contact: Patient Recruitment and Public Liaison Office | (800) 411-1222 | prpl@mail.cc.nih.gov |
Contact: TTY | 1-866-411-1010 |
United States, California | |
Stanford University | Recruiting |
Stanford, California, United States, 94305-5584 | |
United States, Maryland | |
National Institutes of Health Clinical Center, 9000 Rockville Pike | Recruiting |
Bethesda, Maryland, United States, 20892 | |
Suburban Hospital | Recruiting |
Bethesda, Maryland, United States, 20814 | |
United States, Massachusetts | |
University of Massachusetts | Recruiting |
Worcester, Massachusetts, United States, 01655-0331 | |
Boston University | Recruiting |
Boston, Massachusetts, United States, 02118-2354 |
Study ID Numbers: | 960100, 96-H-0100 |
Study First Received: | November 3, 1999 |
Last Updated: | October 22, 2008 |
ClinicalTrials.gov Identifier: | NCT00001532 |
Health Authority: | United States: Federal Government |
Genetic Polymorphism Nitric Oxide Synthase Alpha 1-Antitrypsin Candidate Genes Lung Pathology |
Asthma Lung Disease Cystic Fibrosis Asthma |
Fibrosis Nervous System Malformations Neurodegenerative Diseases Bourneville syndrome Protein C Inhibitor Alpha 1-Antitrypsin Hypersensitivity Lung Diseases, Obstructive Tuberous Sclerosis Heredodegenerative Disorders, Nervous System Respiratory Tract Diseases Tuberous sclerosis Infant, Newborn, Diseases Congenital Abnormalities Cystic fibrosis |
Neurocutaneous Syndromes Asthma Sclerosis Sarcoidosis Nitric Oxide Lymphatic Diseases Digestive System Diseases Cystic Fibrosis Genetic Diseases, Inborn Lung Diseases Hypersensitivity, Immediate Pancreatic Diseases Lymphoproliferative Disorders Malformations of Cortical Development Respiratory Hypersensitivity |
Neoplasms Pathologic Processes Immune System Diseases |
Bronchial Diseases Nervous System Diseases Hamartoma |