Role of Role of Genetic Factors in the Development of Lung Disease

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.

Official Title

Role of Genetic Factors in the Pathogenesis of Lung Disease

Conditions

– Alpha 1 Antitrypsin Deficiency- Cystic Fibrosis- Lung Disease- Obstructive Lung Disease- Sarcoidosis- Asthma

Study Type

Observational

Study Design

Natural History

Further Details

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. 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, chronic obstructive pulmonary disease, cystic fibrosis, sarcoidosis). 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.

Study Start

Eligibility & Criteria

Genders Eligible for Study: Both Accepts Healthy VolunteersCriteria 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) symptoms consistent with pulmonary disease; (3) chest x-ray consistent with pulmonary disease; (4) pulmonary function tests consistent with pulmonary disease; (5) 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, pulmonary fibrosis, asthma 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: (1) age less than 18 or greater than 80 except for patients with cystic fibrosis; (2) positive serum test for human immunodeficiency virus; (3) positive serum test for hepatitis virus; and (4) inability to obtain reliable pulmonary function testing.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.

Total Enrolment

2050

Contact Details

[1] National Heart, Lung, and Blood Institute (NHLBI) (US)