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Role of Genetic Factors in the Development of Lung Disease - NCT00001532-20814(Clinical Trial 111193)



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City:  Bethesda
State:  
MD
Zip Code: 20814
Conditions: Cystic Fibrosis - Sarcoidosis - Tuberous Sclerosis - Asthma
Purpose: 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.
Study summary: 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.
Criteria: - INCLUSION CRITERIA: 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. Relatives of patients with lung disease may also be seen under 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: 1. age less than 18 or greater than 90 except for NIH patients with lung disease (except cystic fibrosis) who are 16 years of age or older, patients with cystic fibrosis who are over eight years of age, or unless patient-specific IRB approval is obtained and 2. inability to obtain reliable pulmonary function testing. As clarification, healthy volunteers, relatives of patients with lung disease, and asthmatic patients from Suburban Hospital will be excluded if less than 18 or greater than 90 years of age. 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.
Study is available at: Suburban Hospital
Bethesda, MD 20814
United States

Primary Contact:
Patient Recruitment and Public Liaison Office
Email: prpl@mail.cc.nih.gov
Phone: (800) 411-1222
If you are interested in this clinical trial please use the contact information above. If you would like to get additional information about this clinical trial please visit ClinicalTrials.gov.
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Data Source: ClinicalTrials.gov
Date Processed: March 21, 2011
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