Study of Alpha-1 Antitrypsin Deficiency in Adults With Breathing Difficulties and Airway Obstruction Using Breathing Tests and Genetic Blood Tests

What this Trial Is About

Researchers are investigating whether Alpha-1 Antitrypsin Deficiency AATD, a genetic condition that reduces a protective protein in the lungs, is more common in people who experience shortness of breath and show airway obstruction on breathing tests. This condition can lead to lung diseases like emphysema, especially in smokers. The study aims to better detect AATD in patients with breathing difficulties to improve diagnosis and treatment options. This is a prospective, case-control study involving patients visiting a pulmonary outpatient clinic for shortness of breath who undergo routine spirometry. Participants are divided into two groups based on lung function results those with airway obstruction and those without. Blood samples are collected to measure AAT protein levels and test for common genetic mutations linked to AATD. Laboratory staff analyzing these samples will not know the participants group assignments. Participants will have their breathing assessed by spirometry and their symptom severity recorded using a standardized scale. Smoking history is collected as well. Blood samples for AAT levels come from routine blood draws, while genetic testing uses a finger-prick sample. Data will be carefully recorded and analyzed to explore the relationship between AATD, airway obstruction, and symptoms. The study continues until early 2026, with results expected to help identify undiagnosed cases and guide future care.

Screening for Alpha-1 Antitrypsin Deficiency in Patients With Airway Obstruction