Alpha-1 Antitrypsin Disease Cohort: Longitudinal Biomarker Study of Disease
Alpha-1 Anti-trypsin Deficiency (AATD) is a genetic disease with lung and liver disease presentations. The purpose of this study is to examine the density of the lung as measured by chest computed tomography (CT) and determine if existing emphysema predicts changes in the rate of subsequent emphysema or changes in CT, serum or plasma biomarkers of interest. The overarching goal is to develop biomarkers that can be used in interventional trials since lung function changes do not typically inform disease progression in AATD.
- Males and females aged 18 years and older
- Patients with known Alpha-1 Anti-trypsin deficiency (PiZZ)
- Be an existing member of the Alpha-1 Foundation Clinical Cohort (Alpha-1 Foundation Research Registry)
- Willingness to perform study procedures of Chest CT, blood biomarker determination, sputum collection, questionnaire completion, and lung function testing.
- AATD non-PiZZ status, including carriers
- Pregnancy at the time of the screening visit