Current status of gene therapy for cystic fibrosis pulmonary disease

American Journal of Respiratory Medicine

Volumn 1, Issue 5, 2002, Pages 349-360

  Kennedy, Mary Jayne ^a  

^a CHILDREN S MERCY HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; ADENOVIRUS VECTOR; AMILORIDE; ANTIINFECTIVE AGENT; BENZAMIL; CORTICOSTEROID; DNA; IBUPROFEN; LIPOSOME; MACROLIDE; MUCOLYTIC AGENT; PANCREAS ENZYME; RECOMBINANT DNA; RETROVIRUS VECTOR; SODIUM CHANNEL BLOCKING AGENT; TRANSMEMBRANE CONDUCTANCE REGULATOR; URIDINE TRIPHOSPHATE; VITAMIN;

ADENO ASSOCIATED VIRUS; CLINICAL TRIAL; CYSTIC FIBROSIS; DRUG SAFETY; ETHNOLOGY; GENE EXPRESSION REGULATION; GENE THERAPY; GENE TRANSFER; HUMAN; HUMORAL IMMUNITY; IMMUNOREACTIVITY; INFLAMMATION; ION TRANSPORT; LUNG FIBROSIS; MUTATIONAL ANALYSIS; NONVIRAL GENE DELIVERY SYSTEM; PRENATAL CARE; PREVALENCE; PRIORITY JOURNAL; REVIEW; TRANSGENE; VIRAL GENE DELIVERY SYSTEM;

EID: 0041856071     PISSN: 11756365     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03256628     Document Type: Review

References (106)

1. Fitz Simmons SC. The changing epidemiology of cystic fibrosis. J Pediatr 1993; 122: 1-9
2. Davis PB, Drumm M, Konstan MW. Cystic fibrosis. Am J Respir Crit Care Med 1996; 154: 1229-56
3. Riordan JR, Rommens JM, Kerem B, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989; 245: 1066-73
4. The Cystic Fibrosis Genetic Analysis Consortium. Worldwide survey of the ΔF508 mutation: report from the Cystic Fibrosis Genetic Analysis Consortium. Am J Hum Genet 1990; 47: 354-9
5. Cystic Fibrosis Foundation. Patient registry 1998 annual data report. Bethesda (MD): Cystic Fibrosis Foundation, 1999
6. Kristidis P, Bozon D, Corey D, et al. Genetic determination of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet 1992; 50: 1178-84
7. The Cystic Fibrosis Genetic Analysis Consortium [online]. Available from URL: http://www.genet.sickkids.on.ca/cftr/ [Accessed 2002 Jan 26]
8. Kennedy MJ, Scott CS. Novel approaches for the management of cystic fibrosis pulmonary disease. J Pediatr Pharmacol Ther 2001; 6: 130-52
9. Knowles MR, Boucher RC. Mucus clearance as a primary innate defense mechanism for mammalian airways. J Clin Invest 2002; 109 (5): 571-7
10. Stutts MJ, Canessa CM, Olsen JC, et al. CFTR as a cAMP-dependent regulator of sodium channels. Science 1995; 269: 847-50
11. Boucher RC, Stutts MJ, Knowles MR, et al. Na+ transport in cystic fibrosis respiratory epithelia: abnormal basal rate and response to adenylate cyclase activation. J Clin Invest 1986; 78: 1245-52
12. Mall M, Bleich M, Greger R, et al. The amiloride-inhibitable Na sup + conductance is reduced by the cystic fibrosis transmembrane conductance regulator in normal but not in cystic fibrosis airways. J Clin Invest 1998; 102: 15-21
13. Bigger B, Coutekke C. Perspectives on gene therapy for cystic fibrosis airway disease. Biodrugs 2001; 15: 615-34
14. Kennedy MJ. Inflammation and cystic fibrosis pulmonary disease. Pharmacotherapy 2001; 21 (5): 593-603
15. Kennedy MJ, Scott CS. Novel approaches for the management of cystic fibrosis pulmonary disease. J Pediatr Pharmacol Ther 2001; 6: 130-52
16. Tizzano EF, O'Brodovich H, Chitayat D, et al. Regional expression of CFTR in developing human respiratory tissues. Am J Respir Cell Mol Biol 1994; 10: 355-62
17. Boucher RC. Status of gene therapy for cystic fibrosis lung disease. J Clin Invest 1999; 103: 441-5
18. Englehardt JF, Yankaskas SA, Ernst SA, et al. Submucosal glands are the predominant site of CFTR expression in the human bronchus. Nat Genet 1992; 2: 240-7
19. Jeffery PK, Gaillard D, Moret S. Human airway secretory cells during development and in mature airway epithelium. Eur Respir J 1992; 5: 93-104
20. Johnson LG, Olsen JC, Sarkadi B, et al. Efficiency of gene transfer for restoration of normal airway epithelial function in cystic fibrosis. Nat Genet 1992; 2: 21-5
21. Johnson LG, Boyles SE, Wilson J, et al. Normalization of raised sodium absorption and raised calcium-mediated chloride secretion by adenovirus-mediated expression of cystic fibrosis transmembrane conductance regulator in primary human cystic fibrosis airway epithelial cells. J Clin Invest 1995; 95: 1377-82
22. Goldman MJ, Yang Y, Wilson JM. Gene therapy in xenograft model of cystic fibrosis lung corrects chloride transport more effectively than the sodium defect. Nat Genet 1995; 9: 126-31
23. Flotte TR, Laube BL. Gene therapy in cystic fibrosis. Chest 2001; 120: 124S-31S
24. Staff AC. An introduction to gene therapy and its potential prenatal use. Acta Obstet Gynecol Scand 2001; 80: 485-91
25. Legendre JY, Szoka FC. Delivery of plasmid DNA into mammalian cell lines using pH-sensitive liposomes: comparison with cationic liposomes. Pharm Res 1992; 9: 1235-42
26. Debs R, Pian M, Gaensler K, et al. Prolonged transgene expression in rodent lung cells. Am J Respir Cell Mol Biol 1992; 7: 406-13
27. Sanchez I, Guiraldes E. Drug management of noninfective complications of cystic fibrosis. Drugs 1995; 50 (4): 626-35
28. Johnson LG. Gene therapy for cystic fibrosis. Chest 1995; 107 (2): 77S-82S
29. Albelda SM, Wiewrodt R, Zuckerman JB. Gene therapy for lung disease: hype or hope? Ann Intern Med 2000; 132: 649-60
30. Fisher KJ, Choi H, Burda J, et al. Recombinant adenovirus deleted of all viral genes for gene therapy of cystic fibrosis. Virology 1996; 217: 11-22
31. Flotte TR. Recent advances in gene transfer methods for the treatment of cystic fibrosis. Curr Res Ion Channel Modulat 1998; 3: 41-50
32. Flotte TR, Solow R, Owens RA, et al. Gene expression from adeno-associated virus vectors in airway epithelial cells. Am J Respir Cell Mol Biol 1992; 7: 349-56
33. Flotte TR. Afinoe SA, Solow R, et al. Expression of the cystic fibrosis transmembrane conductance regulator from a novel adeno-associated virus promoter. J Biol Chem 1993; 268: 3781-90
34. Flotte TR, Carter BJ. In vivo gene therapy with adeno-associated virus vector for cystic fibrosis. Adv Pharmacol 1997; 45: 85-101
35. Rubenstein RC, MeVeigh U, Flotte TR, et al. CFTR gene transduction in neonatal rabbits using an adeno-associated virus (AAV) vector. Gene Ther 1997; 4: 384-92
36. Conrad CK, Allen SS, Afione SA, et al. Safety of single-dose administration of an adeno-associated virus (AAV)-CFTR vector in the primate lung. Gene Ther 1996: 3: 658-68
37. Flotte TR, Adione SA, Conrad C, et al. Stable in vivo expression of the cystic fibrosis transmembrane conductance regulator with an adeno-associated virus vector. Proc Natl Acad Sci 1999; 90: 10613-7
38. Zabner J, Seiler M, Walters R, et al. Adeno-associated virus type 5 (AAV5) but not AAV2 binds to the apical surfaces of airway epithelia and facilitates gene transfer. J Virol 2000; 74: 3852-8
39. Walters RW, Yi SMP, Keshavjee S, et al. Binding of adeno-associated virus type 5 to 2.3-linked sialic acid is required for gene transfer. J Biol Chem 2001; 23: 20610-6
40. Halbert CL, Allen JM, Miller AD. Adeno-associated virus type 6 (AAV6) vectors mediate efficient transduction of airway epithelial cells in mouse lungs compared to that of AAV2 vectors. J Virol 2001; 75: 6615-24
41. Leigh MW, Kylander JE, Yankaskas JR, et al. Cell proliferation in bronchial epithelium and submucosal glands of cystic fibrosis patients. Am J Respir Cell Mol Biol 1995; 12: 605-12
42. Goldman MJ, Lee PS, Yang JS, et al. Lentiviral vectors for gene therapy of cystic fibrosis. Hum Gene Ther 1997: 8: 2261-8
43. Wang G, Slepushkin V, Zabner J, et al. Feline immunodeficiency virus vectors persistently transducer nondividing airway epithelia and correct the cystic fibrosis defect. J Clin Invest 1999: 104: R55-62
44. Thomas DA, Myers MA, Wichert B, et al. Acute effects of liposome aerosol inhalation on pulmonary function in healthy human volunteers. Chest 1991; 99: 1268-70
45. Caplan NJ, Alton EWFW, Middleton PG, et al. Liposome-mediated CFTR gene transfer to the nasal epithelium of patients with cystic fibrosis. Nat Med 1995; 1: 39-46
46. Ferkol T, Kaetzel C. Davis PB. Gene transfer into respiratory epithelial cells via the receptor-mediated endocytosis pathway. Am J Respir Cell Mol Biol 1992; 6: 247-52
47. Ferkol T, Kaetzel C, Perales JC, et al. Gene transfer into respiratory epithelial cells using receptor-mediated endocytosis. Pediatr Pulmonol 1993; 9: 77-8
48. Ziady AG, Kelley TJ, Milliken E, et al. Functional evidence of CFTR gene transfer in nasal epithelium of cystic fibrosis mice in vivo following luminal application of DNA complexes targeted to the serpin-enzyme complex receptor. Mol Ther 2002; 5: 413-9
49. Marchand-Pinatel S, Planells R, Merten MD, et al. A quantitative multistandard reverse transcriptase-polymerase chain reaction assay of the cystic fibrosis transmembrane conductance regulator: its usefulness in studying efficiency of gene transfer. Anal Biochem 2000; 283 (2): 200-6
50. Knowles MR, Paradiso AM, Boucher RC. In vivo nasal potential difference: techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis. Hum Gene Ther 1995; 6: 445-55
51. Knowles MR, Gatzy J, Boucher R. Relative ion permeability of normal and cystic fibrosis nasal epithelium. J Clin Invest 1993; 71: 1410-7
52. Zuckerman JB, Robinson CB, McCoy KS, et al. A phase I study of adenovirus-mediated transfer of the human cystic fibrosis transmembrane conductance regulator gene to a lung segment of individuals with cystic fibrosis. Hum Gene Ther 1999; 10: 2973-85
53. Bellon G. Michael-Calemard L, Thouvenot D, et al. Aerosol administration of a recombinant adenovirus expressing CFTR to cystic fibrosis patients: a phase I clinical trial. Human Gene Ther 1997; 8: 15-25
54. Zabner J, Ramsey BW, Meeker DP, et al. Repeat administration of an adenovirus vector encoding cystic fibrosis transmembrane conductance regulator to the nasal epithelium of patients with cystic fibrosis. J Clin Invest 1996; 97: 1504-11
55. Knowles MR, Hohneker KW, Zhou Z. et al. A controlled study of adenoviral-vector-mediated gene transfer in the nasal epithelium of patients with cystic fibrosis. N Engl J Med 1995; 333: 823-31
56. Hay JG, McElvaney NG, Herena J, et al. Modification of nasal epithelial potential differences of individuals with cystic fibrosis consequent to local administration of a normal CFTR cDNA adenovirus gene transfer vector. Hum Gene Ther 1995; 6: 1487-96
57. Crystal RG, McElvaney NG, Rosenfield MA, et al. Administration of an adenovirus containing the human CFTR cDNA to the respiratory tract of individuals with cystic fibrosis. Nat Genet 1994; 8: 42-51
58. Zabner J, Couture LA, Gregory RJ, et al. Adenovirus-mediated gene transfer transiently corrects the chloride transport defect in nasal epithelia of patients with cystic fibrosis. Cell 1993; 75: 207-16
59. Harvey BG, Leopold PL, Hackett NR, et al. Airway epithelial CFTR mRNA expression in cystic fibrosis patients after repetitive administration of a recombinant adenovirus. J Clin Invest 1999; 104: 1245-55
60. Harvey BG, Hackett NR, El-Sawy T. Variability of human systemic humoral immune responses to adenovirus gene transfer vectors administered to different organ. J Virol 1999; 73: 6729-42
61. Yei S, Mittereder N, Tang K. Adenovirus-mediated gene transfer for cystic fibrosis: quantitative evaluation of repeated in vivo vector administration to the lung. Gene Ther 1994; 1: 192-200
62. Wagner JA, Moran ML, Messner AH, et al. A phase I/II study of tgAAV-CF for the treatment of chronic sinusitis in patients with cystic fibrosis. Human Gene Ther 1998; 9: 889-909
63. Wagner JA, Nepomuceno IB, Shah N, et al. Maxillary sinus as a surrogate model for CF gene therapy clinical trials in patients with antrostomies. J Gene Med 1999; 1: 13-21
64. Porteous DJ, Dorin JR, McLachlan G, et al. Evidence for safety and efficacy of DOTAP cationic liposome mediated CFTR gene transfer to the nasal epithelium of patients with cystic fibrosis. Gene Ther 1997; 4: 210-8
65. Noone PG, Hohneker KW, Zhou Z, et al. Safety and biological efficacy of a lipid-CFTR complex for gene transfer in the nasal epithelium of adult patients with cystic fibrosis. Mol Ther 2000; 1: 105-14
66. Gill DR, Southern KW, Mofford KA, et al. A placebo-controlled study of liposome-mediated gene transfer to the nasal epithelium of patients with cystic fibrosis. Gene Ther 1997; 4: 199-209
67. Alton EW, Stern M, Farley R, et al. Cationic lipid-mediated CFTR gene transfer to the lungs and nose of patients with cystic fibrosis: a double-blind, placebo-controlled trial. Lancet 1999; 353: 947-54
68. Davies JC, Stern M, Dewar A, et al. CFTR gene transfer reduces the binding of Pseudomonas aeruginosa to cystic fibrosis respiratory epithelium. Am J Respir Cell Mol Biol 1997; 16: 657-63
69. Hyde SC, Southern KW, Gileadi U, et al. Repeat administration of DNA/liposomes to the nasal epithelium of patients with cystic fibrosis. Gene Ther 2000; 7: 1156-66
70. Ginsberg HS, Moldawer LL, Seghal PH, et al. A mouse model for investigating the molecular pathogenesis of adenovirus pneumonia. Proc Natl Acad Sci USA 1991; 88: 1651-5
71. Ginsberg HS, Lundholm-Beauchamp U, Horwood RL, et al. Role of early region 3 (E3) in the pathogenesis of adenovirus disease. Proc Natl Acad Sci USA 1989; 86: 3826-7
72. Joseph PM, O'Sullivan BP, Lapey A, et al. Aerosol and lobar administration of a recombinant adenovirus to individuals with cystic fibrosis. I: methods, safety and clinical implications. Hum Gene Ther 2001; 12: 1369-82
73. Yang Y, Jooss KU, Su Q, et al. Immune responses to viral antigens versus transgene product in the elimination of recombinant adenovirus-infected hepatocytes in vivo. Gene Ther 1996; 3: 137-44
74. Yang Y, Su Q, Wilson JM. Role of viral antigens in destructive cellular immune responses to adenovirus vector-transduced cells in mouse lungs. J Virol 1996; 70: 7209-12
75. Yang Y, Nunes FA, Berencsi K, et al. Cellular immunity to viral antigen limits E1-deleted adenoviruses for gene therapy. Proc Natl Acad Sci USA 1994; 91: 4407-11
76. Yang Y, Ertl HC, Wilson JM. MHC class-I restricted cytotoxic T-lymphocytes to viral antigens with E1-deleted recombinant adenoviruses. Immunity 1994; 1: 433-42
77. Melotti P, Nicolis T, Tamanini A, et al. Activation of NF-kB mediates ICAM-I induction in respiratory cells exposed to an adenovirus-derived vector. Gene Ther 2001; 8: 1436-42
78. The Cystic Fibrosis Foundation [online]. Available from URL: http://www.cff.org [Accessed 2002 Jan 26]
79. Wagner JA, Reynolds T, Moran ME, et al. Efficient and persistent gene transfer of AAV-CFTR in maxillary sinus [letter]. Lancet 1998; 351: 1702-3
80. Wagner JA, Messner AH, Moran ML, et al. Safety and biological efficacy of an adeno-associated virus vector-cystic fibrosis transmembrane regulator (AAV-CFTR) in the cystic fibrosis maxillary sinus. Laryngoscope 1999; 109: 266-74
81. Flotte T, Carter B, Conrad C, et al. A phase I study of adeno-associated virus -CFTR gene vector in adult CF patients with mild lung disease. Hum Gene Ther 1996; 7: 1145-59
82. Moskalenko M, Chen L, vanRoey M, et al. Epitope mapping of human anti-adeno-associated virus type 2 neutralizing antibodies: implications for gene therapy and virus structure. J Virol 2000; 74: 1761-6
83. Chirmule N, Xiao W, Truneh A, et al. Humoral immunity to adeno-associated virus type 2 vectors following administration to murine and non-human primate muscle. J Virol 2000; 74: 2420-5
84. Halbert CL, Standaert TA, Wilson CB, et al. Successful readministration of adeno-associated virus vectors to the mouse lung requires transient immunosuppresion during the initial exposure. J Virol 1998; 72: 9795-805
85. Manning WC, Zhou S, Bland MP, et al. Transient immunosuppression allows transgene expression following readministration of adeno-associated viral vectors. Hum Gene Ther 1998: 9: 477-85
86. Ruiz FE, Clancy JP, Perricone MA, et al. A clinical inflammatory syndrome attributable to aerosolized lipid-DNA administration in cystic fibrosis. Hum Gene Ther 2001; 12: 751-61
87. Stern M, Caplen NJ, Browning JE, et al. The effect of mucolytic agents on gene transfer across a CF sputum barrier in vitro. Gene Ther 1998; 5: 91-8
88. Virella-Lowell I, Poirier A, Chestnut KA, et al. Inhibition of recombinant adeno-associated virus (rAAV) transduction by bronchial secretions from cystic fibrosis patients. Gene Ther 2000; 7: 1793-9
89. Baatz JE, Zou Y, Korfhagen TR. Inhibitory effects of tumor necrosis factor-alpha on cationic lipid-mediated gene delivery to airway cells in vitro. Biochem Biophys Acta 2001; 1535: 100-9
90. Johnson LG, Mewshaw JP, Ni H, et al. Effect of host modification and age on airway epithelial gene transfer mediated by a murine leukemia virus-derived vector. J Virol 1998; 72: 8861-72
91. Parsons DW, Grubb BR, Johnson LG, et al. Enhanced in vivo airway gene transfer via transient modification of host barrier properties with a surface-active agent. Hum Gene Ther 1998; 9 (18): 2661-72
92. Wang G, Davidson BL, Melchert P, et al. Influence of cell polarity on retrovirus-mediated gene transfer to differentiated human airway epithelia. J Virol 1998; 72: 9818-26
93. Yang Y, Trinchieri G, Wilson JM. Recombinant IL-12 prevents formation of blocking IgA antibodies to recombinant adenovirus and allows repeated gene therapy to mouse lung. Nat Med 1995; 1: 890-3
94. Gao GP, Yang Y, Wilson JM. Biology of adenovirus vectors with E1 and E4 deletions for liver-directed gene therapy. J Virol 1996; 70: 8934-43
95. Croyle MA, Chirmule N, Zhang Y, et al. 'Stealth' adenoviruses blunt cell-mediated and humoral immune responses against the virus and allow for significant gene expression upon readministration in the lung. J Virol 2001; 75 (10): 4792-801
96. Curiel DT. Strategies to adapt adenoviral vectors for targeted delivery. Ann NY Acad Sci 1999; 886: 158-71
97. Zabner J, Chillon M, Grunst T, et al. A chimeric type 2 adenovirus vector with a type 17 fiber enhances gene transfer to human airway epithelia. J Virol 1999; 73: 8689-95
98. Jost PJ, Harbottle RP, Knight A, et al. A novel peptide, THALWHT, for the targeting of human airway epithelia. FEBS Lett 2001; 489: 263-9
99. Pickles RJ, Kreda SM, Olsen J, et al. High efficiency gene transfer to polarized epithelial cells by re-targeting adenoviral vectors to P2Y2 purinoreceptors with bi-specific antibodies [abstract]. Pediatr Pulmonol 1998; 26 Suppl. 17: 221
100. Lee JH, Baker TJ, Mahal LK, et al. Engineering novel cell surface receptors for virus-mediated gene therapy. J Biol Chem 1999; 274: 21878-84
101. Zanjani ED, Anderson WF. Prospects for in utero human gene therapy. Science 1999; 285: 2084-8
102. Schneider H, Coutelle C. In utero gene therapy: the case for. Nat Med 1999; 5: 256-7
103. Sekhon HS, Larson JE. In utero gene transfer into the pulmonary epithelium. Nat Med 1995; 1: 1201-3
104. Douar AM, Adebakin S, Themis M, et al. Foetal gene delivery in mice by intra-amniotic administration of retroviral producer cells and adenovirus. Gene Ther 1997; 4 (9): 883-90
105. Larsson JE, Morrow SL, Happel L, et al. Reversal of cystic fibrosis phenotype in mice by gene therapy in utero. Lancet 1997; 349 (9052): 619-20
106. Collins FS. Cystic fibrosis: molecular biology and therapeutic implications. Science 1992; 256: 774-9