title: Gene Therapy for Alpha-1 Antitrypsin Deficiency Lung Disease.
abstract: 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.
authors: Department of Genetic Medicine, Weill Cornell Medical College, New York, New York.
authors: Maria J
authors: MJ
authors: Chiuchiolo
authors: Department of Genetic Medicine, Weill Cornell Medical College, New York, New York.
authors: Ronald G
authors: RG
authors: Crystal
mesh_terms: D000256:Adenoviridae; D000818:Animals; D000229:Dependovirus; D015316:Genetic Therapy / Q000379:methods*; D005822:Genetic Vectors; D006801:Humans; D010957:Plasmids; D011656:Pulmonary Emphysema / Q000209:etiology / Q000628:therapy*; D015842:Serine Proteinase Inhibitors / Q000627:therapeutic use*; D000515:alpha 1-Antitrypsin / Q000627:therapeutic use*; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000628:therapy*
chemical_list: D015842:Serine Proteinase Inhibitors; D000515:alpha 1-Antitrypsin
keywords: adeno-associated vector; adenovirus vectors; alpha-1 antytripsin deficiency; gene therapy; lung disease