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The Department of Genetic Medicine at Weill Cornell leads a dynamic and innovative translational research program, advancing diverse fields such as Genetic Therapy and Personalized Medicine.
Gene Therapy for Alpha-1 Antitrypsin Deficiency Lung Disease.
| Publication Type | Review |
| Authors | Chiuchiolo M, Crystal R |
| Journal | Ann Am Thorac Soc |
| Volume | 13 Suppl 4 |
| Issue | Suppl 4 |
| Pagination | S352-69 |
| Date Published | 08/01/2016 |
| ISSN | 2325-6621 |
| Keywords | Genetic Therapy, Pulmonary Emphysema, Serine Proteinase Inhibitors, alpha 1-Antitrypsin, alpha 1-Antitrypsin Deficiency |
| 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. |
| DOI | 10.1513/AnnalsATS.201506-344KV |
| PubMed ID | 27564673 |
| PubMed Central ID | PMC5059492 |