Prospective Observational Study on the Natural History of Alpha-1 Antitrypsin Deficiency and Associated Liver Disease

What this Trial Is About

Alpha-1 Antitrypsin Deficiency AATD occurs when the liver produces an abnormal protein called Z-AAT, which builds up in liver cells and causes low blood levels of AAT. This study focuses on adults with AATD to learn about the natural progression of liver problems caused by this condition over 4 to 8 years. The research also aims to identify factors that predict changes in liver disease, describe how the condition is diagnosed and monitored in usual care, and assess its impact on lung function. Participants include adults diagnosed with either the AATD-Pi*ZZ genotypephenotype with or without liver disease, or the AATD-Pi*SZ genotypephenotype with moderate to severe liver disease. This is an observational study where data is collected prospectively during routine care. No experimental treatment is given. Participants are followed over several years to gather information about their liver and lung health, with data collected according to standard medical practice. During the study, participants provide medical history including the date of AATD diagnosis and any liver or lung problems. Questionnaires about symptoms and quality of life are completed at the start and yearly thereafter until the study ends. Researchers track liver disease progression, regression, mortality, and lung disease development or worsening. Data collection spans up to 8 years, with ongoing monitoring to understand the disease course and current clinical practices.

A Study in Adults to Learn About Inherited Alpha-1 Antitrypsin Deficiency (AATD) and AATD Related Liver Problems