Data Access NOTE: Please refer to the “Authorized Access” section below for information about how access to the data from this accession differs from many other dbGaP accessions. Objectives: To characterize the clinical and laboratory course of patients with severe alpha 1-antitrypsin deficiency whether or not the patient is undergoing long-term augmentation therapy.Background: A hereditary disorder, patients with low serum levels of alpha-1-antitrypsin are at an increased risk for the early onset of emphysema. The only approved treatment for alpha-1-antitrypsin deficiency is augmentation therapy using a purified preparation of human alpha-1-antitryspin. Sample sizes for a randomized controlled clinical trial of augmentation therapy were determined to be infeasible; therefore, a multi-center registry was initiated in 1988 to explore the natural history of the disease and the relative efficacy of augmentation therapy in patients with a severe deficiency of alpha-1-antitrypsin.Participants: Eligible participants included individuals 18 years of age or greater for whom the Central Laboratory confirmed that the serum alpha 1-antitrypsin level is &#x3C; 11 micromolar, or a ZZ genotype confirmed by DNA gene-probe analysis. Individuals with alpha 1-antitrypsin deficiency were accepted into the Registry independent of status of augmentation therapy. However, if the individual was receiving therapy, the serum alpha 1-antitrypsin phenotype and level in the absence of therapy were confirmed by the Central Laboratory. A total of 1,129 participants were enrolled from 37 clinical centers between March 1989 and October 1992. Follow-up continued through April 1996.Conclusions: Participants receiving augmentation therapy had decreased mortality risk during follow-up. FEV1 decline among all participants did not differ by augmentation therapy; however, among participants with FEV1 35-49% predicted, FEV1 decline was significantly slower for participants on augmentation therapy than for those not receiving therapy. (Am J Respir Crit Care Med, 1998; 158:49-59)

Alpha1-Antitrypsin Deficiency Registry (AADR-BioLINCC)

Survival and FEV1 decline in individuals with severe deficiency of alpha1-antitrypsin. The Alpha-1-Antitrypsin Deficiency Registry Study Group.