Long-Term Study of Lung Changes and Biomarkers in Adults with PiMZ Alpha-1 Antitrypsin Deficiency and Emphysema

What this Trial Is About

Researchers are studying lung disease progression in people with Alpha-1 Anti-trypsin Deficiency AATD, focusing on those with the PiMZ genotype. This genetic condition can cause lung and liver problems, and its effects vary among individuals. The goal is to find early signs in lung scans and blood or sputum tests that predict worsening lung disease in these patients, as traditional lung function tests may not always reflect disease progression accurately. The study follows a group of PiMZ patients with obstructive lung disease over three years. Participants will undergo detailed lung imaging using high-resolution CT scans at the start and again at 18 and 36 months. Blood and sputum samples will be collected to measure various biomarkers. Participants also complete questionnaires about their lung health, including monthly surveys about exacerbations. These procedures help researchers track changes in lung density and other markers over time. Participants will have their medical and medication histories reviewed and perform lung function tests such as spirometry at each visit. The study will assess changes in lung density and lung function decline, using CT imaging and biomarker data to identify early signs of worsening emphysema. The total study duration for each participant is three years, with regular follow-ups to monitor lung health and disease progression.

PiMZ Longitudinal Cohort (PiMZ Logic)