Alpha-1 antitrypsin deficiency (AATD) is a largely monogenetic disorder associated with a high risk for the development of chronic obstructive pulmonary disease (COPD) and cirrhosis. Intravenous alpha-1 antitrypsin (AAT) therapy has been available for the treatment of individuals with AATD and COPD since the late 1980s. Initial Food and Drug Administration (FDA) approval was granted based on biochemical efficacy. Following its approval, the FDA, scientific community and third-party payers encouraged manufacturers of AAT therapy to determine its clinical efficacy. This task has proved challenging because AATD is a rare, orphan disorder comprised of individuals who are geographically dispersed and infrequently identified. In addition, robust clinical trial outcomes have been lacking until recently. This review provides an update on the evidence for the clinical efficacy of intravenous AAT therapy for patients with AATD-related emphysema.
Keywords: AAT therapy; alpha-1 antitrypsin deficiency; clinical efficacy; copd; disease modification; emphysema.
Conflict of interest statement
GaryThe authors have no conflicts of interest to declare. Medical writing assistance was provided by Steven Foster of Meridian HealthComms Ltd (Plumley, United Kingdom), funded by CSL Behring.
Indications for Active Case Searches and Intravenous alpha-1 Antitrypsin Treatment for Patients With alpha-1 Antitrypsin Deficiency Chronic Pulmonary Obstructive Disease: An UpdateF Casas et al. Arch Bronconeumol 51 (4), 185-92. PMID 25027067.The effect of hereditary alpha-1 antitrypsin (AAT) deficiency can manifest clinically in the form of chronic obstructive pulmonary disease (COPD). AAT deficiency (AATD) i …
Long-term Clinical Outcomes Following Treatment With Alpha 1-proteinase Inhibitor for COPD Associated With alpha-1 Antitrypsin Deficiency: A Look at the EvidenceFF Rahaghi et al. Respir Res 18 (1), 105. PMID 28558837. - ReviewAlpha-1 antitrypsin deficiency (AATD) is a common hereditary disorder caused by mutations in the SERPINA1 gene, which encodes alpha-1 antitrypsin (AAT; also known as alph …
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Treatment of Lung Disease in alpha-1 Antitrypsin Deficiency: A Systematic ReviewRG Edgar et al. Int J Chron Obstruct Pulmon Dis 12, 1295-1308. PMID 28496314. - ReviewIntravenous augmentation remains the only disease-specific therapy in AATD and there is evidence that this slows decline in emphysema determined by CT density. There is p …
A Review of Augmentation Therapy for alpha-1 Antitrypsin DeficiencyM Mohanka et al. Expert Opin Biol Ther 12 (6), 685-700. PMID 22500781. - ReviewWe conclude with a discussion of our approach to managing patients with AATD and use of augmentation therapy.