Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms.
M L Brantly, L D Paul, B H Miller...
https://pubmed.ncbi.nlm.nih.gov/3264124/Actively Recruiting
Led by National Heart, Lung, and Blood Institute (NHLBI) · Updated on 2026-07-17
3500
Participants Needed
2
Research Sites
N/A
Total Duration
Researchers are evaluating genetic factors involved in the development of various lung diseases such as alpha 1-antitrypsin deficiency, asthma, chronic obstructive pulmonary disease, cystic fibrosis, sarcoidosis, and others. The study aims to understand how genetic variations affect respiratory function by comparing gene expression in lung cells from patients and healthy individuals. The research focuses on identifying the distribution of specific gene variants related to lung disease among affected patients and age- and sex-matched healthy volunteers. Participants include those with lung diseases or possible pulmonary conditions and healthy controls. An optional CT sub-study is offered to some adults and children aged 9 and older with cystic fibrosis, comparing standard CT scans with low dose radiation CT scans to evaluate an alternative method for monitoring lung abnormalities. This may involve one additional low dose CT scan during participants next annual imaging. During the study, participants undergo genetic testing and assessments related to lung function, including chest x-rays and pulmonary function tests. Some participants may take part in the CT scan sub-study with additional imaging. Researchers will monitor hereditary factors over one year and continue assessing CT scan techniques. Participation includes evaluations of lung disease symptoms, imaging, and gene analysis, aiming to improve understanding of lung disease development over time.
CONDITIONS
Role of Genetic Factors in the Development of Lung Disease
T
Tatyana A Worthy, R.N.
J
Joel Moss, M.D.
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National Heart, Lung, and Blood Institute (NHLBI)
Lead Sponsor
Suburban Hospital
Collaborating Sponsor
You may qualify if you...
You will not qualify if you...
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 1 year
Participants provide genetic samples and undergo evaluations such as chest x-rays and pulmonary function tests. Some may participate in an optional CT scan sub-study involving additional low dose radiation scans to assess lung abnormalities.
Visits scheduled as needed for assessments and imaging
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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Lead Sponsor
Suburban Hospital
Collaborating Sponsor