Gene therapy for alpha-1 antitrypsin deficiency lung disease Academic Article uri icon


MeSH Major

  • Lung
  • Pulmonary Diffusing Capacity
  • Smoking
  • Tobacco Use Disorder
  • Transcriptome


  • Alpha-1 antitrypsin (AAT) deficiency, characterized by low plasma levels of the serine protease inhibitor AAT, is associated with emphysema secondary to insufficient protection of the lung from neutrophil proteases. Although AAT augmentation therapy with purified AAT protein is efficacious, it requires weekly to monthly intravenous infusion of AAT purified from pooled human plasma, has the risk of viral contamination and allergic reactions, and is costly. As an alternative, gene therapy offers the advantage of single administration, eliminating the burden of protein infusion, and reduced risks and costs. The focus of this review is to describe the various strategies for AAT gene therapy for the pulmonary manifestations of AAT deficiency and the state of the art in bringing AAT gene therapy to the bedside.

publication date

  • August 2016



  • Academic Article



  • eng

PubMed Central ID

  • PMC5059492

Digital Object Identifier (DOI)

  • 10.1513/AnnalsATS.201506-344KV

PubMed ID

  • 27564673

Additional Document Info

start page

  • S352

end page

  • 69


  • 13