Gene therapy for alpha-1 antitrypsin deficiency lung disease

Maria J. Chiuchiolo, Ronald Crystal

Research output: Contribution to journalArticle

13 Citations (Scopus)


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 forAAT gene therapy for the pulmonary manifestations of AAT deficiency and the state of the art in bringing AAT gene therapy to the bedside.

Original languageEnglish
Pages (from-to)S352-S369
JournalAnnals of the American Thoracic Society
Publication statusPublished - 1 Aug 2016
Externally publishedYes



  • Adeno-associated vector
  • Adenovirus vectors
  • Alpha-1 antytripsin deficiency
  • Gene therapy
  • Lung disease

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

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