Alpha-1 Antitrypsin PiMZ Longitudinal Cohort (PiMZ Logic)
Columbia University
Summary
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.
Description
Progression of lung disease in patients with Alpha-1 Anti-trypsin deficiency is variable and while some patients may have stable lung function over many years, some progress and deteriorate rapidly. Currently there are no predictors that would help identify patient at risk of rapid deterioration in the PiMZ patient population. The aim of this study is to identify markers and features in CT imaging that may allow identification of these patients early before deterioration. To achieve this, the study will follow a cohort of patients with confirmed Alpha-1 Anti-trypsin deficiency (MZ genotype) an…
Eligibility
- Age range
- 18+ years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: 1. Males and females aged 18 years and older 2. Understand the study procedures, risks, benefits, purpose 3. Able and willing to comply with the study procedures 4. Have PiMZ alpha-1 antitrypsin deficiency 5. Post bronchodilator FEV1 \< 80% predicted AND post bronchodilator FEV1/FVC \< 70% 6. Be an existing member of the Alpha-1 Foundation Clinical Cohort (also known as the Alpha-1 Foundation Research Registry) 7. Agree to have the data collected in this study be shared with the Alpha-1 Foundation Research Registry Exclusion Criteria: 1. AATD non-PiMZ status, including c…
Locations (5)
- University of Alabama at BirminghamBirmingham, Alabama
- University of California- Los AngelesLos Angeles, California
- National Jewish HealthDenver, Colorado
- University of ChicagoChicago, Illinois
- Columbia University Irving Medical CenterNew York, New York