Alpha-1 Anti-trypsin Deficiency (AATD) is a genetic disease with lung and liver disease presentations. Presentations are variable in the heterozygous population, the most predominant genotype being PiMZ. The purpose of this study in PiMZ heterozygous patients 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 pertinent to the PiMZ patient that can be used in interventional trials since lung function changes do not typically inform disease progression in AATD.
Who can participate
Age range18 Years
SexALL
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Inclusion criteria
✓. Males and females aged 18 years and older
✓. Understand the study procedures, risks, benefits, purpose
✓. Able and willing to comply with the study procedures
✓. Have PiMZ alpha-1 antitrypsin deficiency
✓. Post bronchodilator FEV1 \< 80% predicted AND post bronchodilator FEV1/FVC \< 70%
✓. Be an existing member of the Alpha-1 Foundation Clinical Cohort (also known as the Alpha-1 Foundation Research Registry)
✓. Agree to have the data collected in this study be shared with the Alpha-1 Foundation Research Registry
Exclusion criteria
✕. AATD non-PiMZ status, including carriers
✕. Current lung, hematologic, or solid organ malignancy other than skin or cervical Stage 1 cancers within the past 3 years
✕. COPD exacerbation or other pulmonary infection within 6 weeks of baseline visit
What they're measuring
1
Change in lung density over three years
Timeframe: 3 years
2
Decline of PERC-15 (15th percentile) over three years