Role of Genetic Factors in the Pathogenesis of Lung Disease

What this Trial Is About

Researchers are studying how genetic factors contribute to lung diseases by analyzing genes involved in breathing and lung cell function. This observational study focuses on identifying abnormal gene variants linked to various lung conditions such as alpha 1-antitrypsin deficiency, asthma, chronic obstructive pulmonary disease, cystic fibrosis, sarcoidosis, infections, and other genetic mutations. The study compares these genetic traits between affected patients and healthy volunteers. Participants include individuals with lung diseases, possible lung diseases, and healthy controls. An optional CT sub-study involves up to 150 subjects, including adults with lung disease and children aged 9 and older with cystic fibrosis. This sub-study compares standard CT scans to low dose radiation CT scans to evaluate if the lower dose method can effectively monitor lung abnormalities. Children must have had a prior standard CT scan for medical reasons to join this optional part. During the study, participants undergo genetic testing, pulmonary function tests, chest X-rays, and clinical evaluations. Some may participate in the CT scan sub-study with additional imaging. Researchers monitor genetic variants and lung disease markers over a year to understand hereditary factors. Pregnant or nursing women may participate but will avoid higher-risk procedures during pregnancy. Participation duration and assessments vary by individual health status and study group.

Role of Genetic Factors in the Development of Lung Disease