Role of Genetic Factors in the Development of Lung Disease

Asthma Clinical Trial

Official title: Role of Genetic Factors in the Pathogenesis of Lung Disease

Status Recruiting

Clinical Trial Summary

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.

Optional CT Sub-study

The standard CT scan will be compared to the low dose radiation CT scan for the 150 subjects enrolled in the sub-study to assess the variation between the two techniques. Specifically, the quantitative computer aided detection of lung CT abnormalities from LAM can be compared to assess whether low radiation dose CT exams is an alternative to conventional CT to monitor disease

status.

This optional sub-study will be offered to up to 100 adult subjects with lung disease and up to 50 children age 9 and older with CF. Children will not be enrolled in the optional CT sub-study unless they have had a standard CT scan for medical purposes to use in comparison. One additional low dose radiation CT scan of the chest may be done as part of this sub-study when these subjects have their next annual CT scan.

Clinical Trial Description

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. ;

Related Conditions & MeSH terms

• Asthma
• Cystic Fibrosis
• Fibrosis
• Lung Diseases
• Pulmonary Fibrosis
• Pulmonary Sarcoidosis
• Sarcoidosis
• Sarcoidosis, Pulmonary
• Tuberous Sclerosis

• NCT number: NCT00001532
• Study type: Observational
• Source: National Institutes of Health Clinical Center (CC)
• Contact: Tatyana Worthy, R.N.
• Phone: (301) 827-1376
• Email: worthyt@mail.nih.gov
• Status: Recruiting
• Start date: September 13, 1996