Rationale and Design of the Alpha-1 Biomarkers Consortium Study
Monica P Goldklang1, Cheryl Pirozzi2, Igor Barjaktarevic3
1Columbia University, New York, New York, United States.
Chronic Obstructive Pulmonary Diseases (Miami, Fla.)
|April 24, 2025
Summary
Alpha-1 antitrypsin deficiency (AATD) causes COPD with varied symptoms. This study uses CT scans and biomarkers to understand AATD
Area of Science:
- Pulmonary Medicine
- Genetics
- Biomarker Research
Background:
- Alpha-1 antitrypsin deficiency (AATD) is a primary genetic driver of chronic obstructive pulmonary disease (COPD).
- Significant variability in clinical presentation and disease progression exists among individuals with AATD, despite shared genetic variants.
- Understanding this heterogeneity is crucial for personalized management strategies.
Purpose of the Study:
- To investigate how computed tomography (CT) imaging and serum/airway biomarkers explain phenotypic variability in AATD.
- To identify factors associated with disease severity and progression in individuals with AATD.
- To establish a comprehensive longitudinal cohort for deep phenotyping of AATD.
Main Methods:
- A multi-center longitudinal study of 270 adult PiZZ AATD participants over 3 years.
- Data collection includes spirometry, patient-reported outcomes, biosampling (blood, sputum, nasal mucosa), and chest CT imaging.
- Genetic analysis (SERPINA1 sequencing) and iPSC generation from PBMCs will be performed.
Main Results:
- Deep characterization of the AATD cohort through cross-sectional and longitudinal imaging, physiological, and symptomatological data.
- Quantitative emphysema measures and novel airway remodeling metrics derived from CT imaging.
- A validation cohort in Ireland will independently enroll patients using identical procedures.
Conclusions:
- This study represents the first AATD cohort to integrate detailed quantitative emphysema measures and advanced imaging.
- The findings aim to elucidate the underlying mechanisms of AATD heterogeneity.
- Identification of key factors influencing disease severity and progression in AATD.
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