Intrapleural administration of an AAVrh.10 vector coding for human α1-antitrypsin for the treatment of α1-antitrypsin deficiency

Human Gene Therapy Clinical Development

Volumn 24, Issue 4, 2013, Pages 161-173

  Chiuchiolo, Maria J ^a   Kaminsky, Stephen M ^a   Sondhi, Dolan ^a   Hackett, Neil R ^a   Rosenberg, Jonathan B ^a   Frenk, Esther Z ^a   Hwang, Yihharn ^a   Van De Graaf, Benjamin G ^a   Hutt, Julie A ^b   Wang, Gensheng ^b   Benson, Janet ^b   Crystal, Ronald G ^a  

^a WEILL CORNELL MEDICAL COLLEGE   (United States)

^b LOVELACE RESPIRATORY RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOVIRUS VECTOR; ALANINE AMINOTRANSFERASE; ALBUMIN; ALKALINE PHOSPHATASE; ALPHA 1 ANTITRYPSIN; ASPARTATE AMINOTRANSFERASE; BILIRUBIN; CALCIUM; CHLORIDE; CHOLESTEROL; CREATINE KINASE; CREATININE; GLOBULIN; GLUCOSE; HEMOGLOBIN; MESSENGER RNA; NEUTRALIZING ANTIBODY; PHOSPHORUS; POTASSIUM; PROTEIN; SODIUM; UREA;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; ALBUMIN BLOOD LEVEL; ALKALINE PHOSPHATASE BLOOD LEVEL; ALPHA 1 ANTITRYPSIN DEFICIENCY; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ANTIBODY BLOOD LEVEL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BASOPHIL; BILIRUBIN BLOOD LEVEL; BLOOD; BONE MARROW; BRAIN; CALCIUM BLOOD LEVEL; CHLORIDE BLOOD LEVEL; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; CREATININE BLOOD LEVEL; DIAPHRAGM; DRUG DISTRIBUTION; DRUG EFFICACY; DRUG SAFETY; DRUG TOLERABILITY; EOSINOPHIL COUNT; ERYTHROCYTE COUNT; FEMALE; GENE EXPRESSION; GLOBULIN BLOOD LEVEL; GLUCOSE BLOOD LEVEL; HEART; HEMATOCRIT; HEMOGLOBIN BLOOD LEVEL; HISTOPATHOLOGY; KIDNEY; LEUKOCYTE COUNT; LEUKOCYTE DIFFERENTIAL COUNT; LIVER; LUNG; LYMPHOCYTE COUNT; LYMPHOID TISSUE; MALE; MEAN CORPUSCULAR HEMOGLOBIN; MEAN CORPUSCULAR VOLUME; MONOCYTE; MORBIDITY; MORTALITY; MOUSE; NEUTROPHIL COUNT; NONHUMAN; ORGAN WEIGHT; OVARY; PANCREAS; PHOSPHATE BLOOD LEVEL; POTASSIUM BLOOD LEVEL; PRIMATE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTHROMBIN TIME; QUADRICEPS FEMORIS MUSCLE; RISK ASSESSMENT; SEROTYPE; SODIUM BLOOD LEVEL; TESTIS; THORACIC CAVITY; THROMBOCYTE COUNT; UREA NITROGEN BLOOD LEVEL; VIRAL GENE DELIVERY SYSTEM; VIRAL GENE THERAPY;

ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; ANIMALS; DEPENDOVIRUS; GENETIC THERAPY; GENETIC VECTORS; HUMANS; INJECTIONS; MICE; MICE, INBRED C57BL; ORGAN SPECIFICITY; PRIMATES;

EID: 84907251315     PISSN: 23248637     EISSN: 23248645     Source Type: Journal    
DOI: 10.1089/humc.2013.168     Document Type: Article

References (50)

1. Alam, S., Li, Z., Janciauskiene, S., et al. (2011). Oxidation of Z alpha1-antitrypsin by cigarette smoke induces polymerization: a novel mechanism of early-onset emphysema. Am. J. Respir. Cell Mol. Biol. 45, 261-269.
2. Alpha-1 Registry. (1998). Survival and FEV1 decline in individuals with severe deficiency of alpha1-antitrypsin. The Alpha-1-Antitrypsin Deficiency Registry Study Group. Am. J. Respir. Crit. Care Med. 158, 49-59
3. ATS/ERS Task Force. (2003). American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am. J. Respir. Crit. Care Med. 168, 818-900.
4. Brantly, M., Nukiwa, T., and Crystal, R.G. (1988a). Molecular basis of alpha-1-antitrypsin deficiency. Am. J. Med. 84, 13-31.
5. Brantly, M.L., Paul, L.D., Miller, B.H., et al. (1988b). Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms. Am. Rev. Respir. Dis. 138, 327-336.
6. Brantly, M.L., Wittes, J.T., Vogelmeier, C.F., et al. (1991). Use of a highly purified alpha 1-antitrypsin standard to establish ranges for the common normal and deficient alpha 1-antitrypsin phenotypes. Chest 100, 703-708.
7. Brantly, M.L., Spencer, L.T., Humphries, M., et al. (2006). Phase I trial of intramuscular injection of a recombinant adeno-associated virus serotype 2 alphal-antitrypsin (AAT) vector in AAT-deficient adults. Hum. Gene Ther. 17, 1177-1186. (Pubitemid 44975135)
8. Brantly, M.L., Chulay, J.D., Wang, L., et al. (2009). Sustained transgene expression despite T lymphocyte responses in a clinical trial of rAAV1-AAT gene therapy. Proc. Natl. Acad. Sci. USA 106, 16363-16368.
9. Carrell, R., and Boswell, D. (1986). Serpins: the superfamily of plasma serine protease inhibitors. In Proteinase Inhibitors. A. Barrett and G. Salvensen, eds. (Elsevier, Amsterdam), pp. 403-420.
10. Carrell, R.W., and Lomas, D.A. (2002). Alpha1-antitrypsin deficiency-a model for conformational diseases. N. Engl. J. Med. 346, 45-53. (Pubitemid 34438920)
11. Chulay, J.D., Ye, G.J., Thomas, D.L., et al. (2011). Preclinical evaluation of a recombinant adeno-associated virus vector expressing human alpha-1 antitrypsin made using a recom-binant herpes simplex virus production method. Hum. Gene Ther. 22, 155-165.
12. Crystal, R.G. (1990). Alpha 1-antitrypsin deficiency, emphysema, and liver disease. Genetic basis and strategies for therapy. J. Clin. Invest. 85, 1343-1352. (Pubitemid 20176425)
13. Crystal, R.G., Brantly, M.L., Hubbard, R.C., et al. (1989). The alpha 1-antitrypsin gene and its mutations. Clinical consequences and strategies for therapy. Chest 95, 196-208.
14. Curiel, D.T., Holmes, M.D., Okayama, H., et al. (1989). Molecular basis of the liver and lung disease associated with the alpha 1-antitrypsin deficiency allele Mmalton. J. Biol. Chem. 264, 13938-13945. (Pubitemid 19198490)
15. Dane, A.P., Wowro, S.J., Cunningham, S.C., et al. (2013). Comparison of gene transfer to the murine liver following intra-peritoneal and intraportal delivery of hepatotropic AAV pseudo-serotypes. Gene Ther. 20, 460-464.
16. De, B., Heguy, A., Leopold, P.L., et al. (2004). Intrapleural administration of a serotype 5 adeno-associated virus coding for alpha1-antitrypsin mediates persistent, high lung and serum levels of alpha1-antitrypsin. Mol. Ther. 10, 1003-1010. (Pubitemid 39625244)
17. De, B.P., Heguy, A., Hackett, N.R., et al. (2006). High levels of persistent expression of alpha1-antitrypsin mediated by the nonhuman primate serotype rh.10 adeno-associated virus despite preexisting immunity to common human adeno-associated viruses. Mol. Ther. 13, 67-76. (Pubitemid 41763484)
18. Dirksen, A., Dijkman, J.H., Madsen, F., et al. (1999). A randomized clinical trial of alpha(1)-antitrypsin augmentation therapy. Am. J. Respir. Crit. Care Med. 160, 1468-1472.
19. Ferrari, S., Griesenbach, U., Geddes, D.M., et al. (2003). Im-munological hurdles to lung gene therapy. Clin. Exp. Immunol. 132, 1-8. (Pubitemid 36418899)
20. Flotte, T.R., and Mueller, C. (2011). Gene therapy for alpha-1 antitrypsin deficiency. Hum. Mol. Genet. 20, R87-R92.
21. Gad, S.C. (2006). Animal Models in Toxicology (CRC Press, Boca Raton, FL).
22. Gadek, J.E., Fells, G.A., Zimmerman, R.L., et al. (1981a). Anti-elastases of the human alveolar structures. Implications for the protease-antiprotease theory of emphysema. J. Clin. Invest. 68, 889-898. (Pubitemid 11023517)
23. Gadek, J.E., Klein, H.G., Holland, P.V., et al. (1981b). Replacement therapy of alpha 1-antitrypsin deficiency. Reversal of protease-antiprotease imbalance within the alveolar structures of PiZ subjects. J. Clin. Invest. 68, 1158-1165. (Pubitemid 12235015)
24. Greene, C.M., Miller, S.D., Carroll, T., et al. (2008). Alpha-1 an-titrypsin deficiency: a conformational disease associated with lung and liver manifestations. J. Inherit. Metab. Dis. 31, 21-34.
25. Hackett, N.R., Redmond, D.E., Sondhi, D., et al. (2005). Safety of direct administration of AAV2(CU)hCLN2, a candidate treatment for the central nervous system manifestations of late infantile neuronal ceroid lipofuscinosis, to the brain of rats and nonhuman primates. Hum. Gene Ther. 16, 1484-1503. (Pubitemid 41829023)
26. Hubbard, R.C., and Crystal, R.G. (1988). Alpha-1-antitrypsin augmentation therapy for alpha-1-antitrypsin deficiency. Am. J. Med. 84, 52-62.
27. Hubbard, R.C., and Crystal, R.G. (1990). Augmentation therapy of alpha 1-antitrypsin deficiency. Eur. Respir. J. Suppl. 9, 44s-52s. (Pubitemid 20118572)
28. Hubbard, R.C., Sellers, S., Czerski, D., et al. (1988). Biochemical efficacy and safety of monthly augmentation therapy for alpha 1-antitrypsin deficiency. JAMA 260, 1259-1264.
29. Limberis, M.P., Vandenberghe, L.H., Zhang, L., et al. (2009). Transduction efficiencies of novel AAV vectors in mouse airway epithelium in vivo and human ciliated airway epithelium in vitro. Mol. Ther. 17, 294-301.
30. Lockett, A.D., Van, D.M., Gu, Y., et al. (2012). Effect of cigarette smoke exposure and structural modifications on the alpha-1 antitrypsin interaction with caspases. Mol. Med. 18, 445-454.
31. Lomas, D.A., and Parfrey, H. (2004). Alpha1-antitrypsin deficiency. 4: Molecular pathophysiology. Thorax 59, 529-535.
32. Lomas, D.A., Evans, D.L., Finch, J.T., et al. (1992). The mechanism of Z alpha 1-antitrypsin accumulation in the liver. Nature 357, 605-607.
33. Lu, Y., Choi, Y.K., Campbell-Thompson, M., et al. (2006). Therapeutic level of functional human alpha 1 antitrypsin (hAAT) secreted from murine muscle transduced by adeno-associated virus (rAAV1) vector. J. Gene Med. 8, 730-735.
34. Lungarella, G., Cavarra, E., Lucattelli, M., et al. (2008). The dual role of neutrophil elastase in lung destruction and repair. Int. J. Biochem. Cell Biol. 40, 1287-1296.
35. Mueller, C., and Flotte, T.R. (2013). Gene-based therapy for alpha-1 antitrypsin deficiency. COPD 10 Suppl 1, 44-49.
36. Nukiwa, T., Satoh, K., Brantly, M.L., et al. (1986). Identification of a second mutation in the protein-coding sequence of the Z type alpha 1-antitrypsin gene. J. Biol. Chem. 261, 15989-15994. (Pubitemid 17202848)
37. Rosenfeld, M.A., Siegfried, W., Yoshimura, K., et al. (1991). Adenovirus-mediated transfer of a recombinant alpha 1-antitrypsin gene to the lung epithelium in vivo. Science 252, 431-434. (Pubitemid 21916979)
38. Rosenfeld, M.A., Yoshimura, K., Trapnell, B.C., et al. (1992). In vivo transfer of the human cystic fibrosis transmembrane conductance regulator gene to the airway epithelium. Cell 68, 143-155.
39. Silverman, E.K., and Sandhaus, R.A. (2009). Clinical practice. Alpha1-antitrypsin deficiency. N. Engl. J. Med. 360, 2749-2757.
40. Smith, B., Crummett, T., and Brandt, K. (1994). Ages of eruption of primate teeth: a compendium for aging individuals and comparing life histories. Yearb. Phys. Anthropol. 37, 177-231.
41. Sondhi, D., Johnson, L., Purpura, K., et al. (2012). Long-term expression and safety of administration of AAVrh.10hCLN2 to the brain of rats and nonhuman primates for the treatment of late infantile neuronal ceroid lipofuscinosis. Hum. Gene Ther. Methods 23, 324-335.
42. Stoller, J.K., and Aboussouan, L.S. (2005). Alpha1-antitrypsin deficiency. Lancet 365, 2225-2236.
43. Stoller, J.K., and Aboussouan, L.S. (2012). A review of alpha1-antitrypsin deficiency. Am. J. Respir. Crit. Care Med. 185, 246-259.
44. Thompson Healthcare. (2010). Red Book: Pharmacy's Fundamental Reference (Thomson Reuters, PDR Network, New York).
45. Toft, J.D.I. (1986). The pathoparasitology of nonhuman primates: a review. In Primates. The Road to Self-Sustaining Populations. E. Benirschke, ed. (Springer, New York), pp. 571-679.
46. Tuder, R.M., Janciauskiene, S.M., and Petrache, I. (2010). Lung disease associated with alpha1-antitrypsin deficiency. Proc. Am. Thorac. Soc. 7, 381-386.
47. Turner, A.M. (2013). Alpha-1 antitrypsin deficiency: new developments in augmentation and other therapies. BioDrugs. 27, 547-558.
48. Wewers, M.D., Casolaro, M.A., Sellers, S.E., et al. (1987). Replacement therapy for alpha 1-antitrypsin deficiency associated with emphysema. N. Engl. J. Med. 316, 1055-1062. (Pubitemid 17047294)
49. Yang, Y., Li, Q., Ertl, H.C., et al. (1995). Cellular and humoral immune responses to viral antigens create barriers to lung-directed gene therapy with recombinant adenoviruses. J. Virol. 69, 2004-2015.
50. Zamora, N.P., Pla, R.V., Del Rio, P.G., et al. (2008). Intravenous human plasma-derived augmentation therapy in alpha 1-antitrypsin deficiency: from pharmacokinetic analysis to individualizing therapy. Ann. Pharmacother. 42, 640-646. (Pubitemid 351619934)