Introduction: Alpha-1 antitrypsin deficiency (AATD) is a genetic condition causing lung and liver disease. The Alpha-1 Foundation (A1F) has re-established the Alpha-1 Research Registry which contains extensive patient reported and clinical data from which patients can be identified for suitable clinical trials. 

Aims: To establish a patient registry within a patient advocacy organization and to analyze demographic and participant specific characteristics of AATD patients. 

Methods: Research Electronic Data Capture (REDCap) was utilized to collect over 1,300 discrete data points per patient including demographic and patient reported data with extensive characterization of diagnosis, symptomology, and treatment. Patients were recruited from A1F events, AlphaNet and the historical contact Registry. 

Results: Between June 2019 and February 2023, 2907 patients enrolled. 67% female, 33% males. Patients ranged from 1 to 90 years of age. All 50 states represented and 97% identify as white. Rare genotypes account for >50% of the Registry, including 39% ZZ and 11% SZ. The MZ population makes up 28%. Alpha-1 testing was performed in 911 due to lung disease, 191 due to liver disease, 665 due to familial testing, and 154 via direct-to-consumer testing. Augmentation therapy was used in 791 participants.

Conclusion: This Registry will be utilized to develop a natural history database, has the capacity to identify patients of interest for AATD related clinical trials and will provide invaluable insight in the challenges in the Alpha-1 community. Eligible PiZZ Registry participants were invited to participate in the longitudinal biomarker consortium, an NIH and A1F supported initiative.