Establishment of an Alpha-1 research registry within the patient advocacy organization

Abstract

Introduction: Alpha-1 antitrypsin deficiency (AATD) is a rare genetic condition causing both lung and liver disease. The Alpha-1 Foundation (A1F) has supported a patient registry since early 1990s, and now established an upgraded Research Registry within the A1F.

Methods: The A1F built a RedCap database within a secure HIPAA compliant online environment. All historical contact registry patients were invited to participate and communications from the Foundation and AlphaNet were utilized. Demographics and extensive patient reported clinical information was obtained.

Results: Between June 2019 and May 2022, 2,696 patients were enrolled. 66% are female, 33% male and < 1% reported other. 98% of enrollees identify as white. Rare genotypes account for > 50% of the registry, including 37% ZZ, 11% SZ, 1.5% ZNull, and 1% FZ. The MZ population makes up 29% of the registry population. Patients range from 1 to 89 years old (55.6 +/− 13.9). Alpha-1 testing was performed on 129 patients for liver disease, 791 lung disease, 527 family testing and 438 for other reasons including 118 direct-to-consumer genetic testing. 744 patients received augmentation therapy (60.5% PiZZ, 13.4% PiMZ, and 9.2% PiSZ). Of the 660 PiZZ and 218 PiSZ patients 66% and 30% are ever-users of augmentation therapy, respectively.

Conclusion: Establishment of a robust patient registry within our patient advocacy organization has been achieved. The Alpha-1 Registry at the A1F contains extensive patient reported clinical information which is crucial in understanding the natural history of AATD and has the capacity to identify patients of interest for AATD related clinical trials.