Gene therapy for cystic fibrosis

Chest

Volumn 109, Issue 1, 1996, Pages 241-252

  Rosenfeld, Melissa A ^a   Collins, Francis S ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

airway; cystic fibrosis; epithelial cells; gene therapy; vectors

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR; VIRUS VECTOR;

ARTICLE; CHLORIDE CONDUCTANCE; CYSTIC FIBROSIS; EPITHELIUM CELL; GENE DELETION; GENE SEQUENCE; GENE THERAPY; GENE TRANSFER; HUMAN; LUNG DISEASE; PRIORITY JOURNAL;

EID: 0030026531     PISSN: 00123692     EISSN: None     Source Type: Journal    
DOI: 10.1378/chest.109.1.241     Document Type: Article

References (103)

1. Ramsey BW, Boat T. Outcome measures for clinical trials in cystic fibrosis. J Pediatr 1994; 124:177-92
2. Boat TF, Welsh MJ, Beaudet AL. Cystic fibrosis. In: Scriver CR. Beaudet AL, Sly WS, eds. The metabolic basis of inherited disease. New York: McGraw-Hill, 1989; 2649-80
3. FitzSimmons SC. The changing epidemiology of cystic fibrosis. J Pediatr 1993; 122:1-9
4. Fanconi G, Uehlinger E, Knaver C. Das Coeliaksyndrom bei angeborener zystischer pankreas fibromatose und bronchiektasien. Wien Med Wochenschr 1936; S6:753-56
5. Blackfan KD, May CD. Inspissation of secretion and dilation of ducts and acini: atrophy and fibrosis of the pancreas in infants. Pediatrics 1938; 13:627-34
6. Anderson DH. Cystic fibrosis of the pancreas and its relation to celiac disease: a clinical and pathologic study. Am J Dis Child 1938; 56:34-99
7. Anderson DH, Hodges RC. Celiac syndrome v genetics of cystic fibrosis of the pancreas with a consideration of etiology. Am J Dis Child 1946; 72:62-80
8. di Sant'Agnese PA, Darling RC, Perera GA, et al. Abnormal composition of sweat in cystic fibrosis of the pancreas: clinical significance and relationship to the disease. Pediatrics 1953; 12:549-63
9. Quinton PM. Chloride impermeability in cystic fibrosis. Nature 1983; 301:421-22
10. Knowles M, Gatzy J, Boucher K. Relative ion permeability of normal and cystic fibrosis nasal epithelium. J Clin Invest 1983; 71:1410-17
11. Collins FS. Cystic fibrosis, molecular biology and therapeutic implications. Science 1992; 250:774-79
12. Rommens JM, Iannuzzi MC, Kerem B, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989; 245:1059-65
13. Riordan JR, Rommens JM, Kerem BT, et al. Identifications of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989; 245:1066-73
14. Kerem B, Rommens JM, Buchanan JA, et al. Identification of the cystic fibrosis gene: genetic analysis. Science 1989; 245: 1073-80
15. Drumm ML, Pope HA, Cliff WH, et al. Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer. Cell 1990; 62:1227-33
16. Rich DP, Anderson MP, Gregory RJ, et al. Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells. Nature 1990; 347:358-63
17. Welsh MJ, Anderson MP, Rich DP, et al. Cystic fibrosis transmembrane conductance regulator: a chloride channel with novel regulation. Neuron 1992; 8:821-29
18. O'Neal WK, Beaudet AL. Somatic gene therapy for cystic fibrosis. Hum Mol Genet 1994; 3:1497-1502
19. Alton EWFW, Geddes DM. Gene therapy for cystic fibrosis: a clinical perspective. Gene Ther 1995; 2:88-95
20. Korst RJ, Mc-Elvaney NG, Chu CS, et al. Gene therapy for the respiratory manifestations of cystic fibrosis. Am J Respir Crit Care Med 1995; 151:575-87
21. Crystal RG, McElvaney NC, Rosenfeld MA, et al. Administration of an adenovirus containing the human CFTR cDNA to the respiratory tract of individuals with cystic fibrosis. Nature Genet 1994; 8:42-51
22. Davis PB. Pathophysiology of the lung disease in cystic fibrosis. In: Davis PB, ed. Cystic fibrosis. New York: Marcel Decker, 1993; 193-218
23. Turpin SY, Knowles MR. Treatment of pulmonary disease in cystic fibrosis. In: Davis PB, ed. Cystic fibrosis. New York: Marcel Decker. 1993; 277-344
24. Shak S, Capon DJ, Hellniss R, et al. Recombinant human DNase I reduces the viscosity of cystic fibrosis sputum. Proc Natl Acad Sci USA 1990; 87:9188-92
25. Hubbard RC, McElvaney N, Birrer P, et al. A preliminary study of aerosolized recombinant human deoxyribonuclease I in the treatment of cystic fibrosis. N Engl J Med 1992; 326:812-15
26. Aitken ML, Burke W, McDonald G, et al. Recombinant human DNAase inhalation in normal subjects and patients with cystic fibrosis: a phase 1 study. JAMA 1992; 267:1947-51
27. Zielenski J, Markiewicz D, Chen HS, et al. Identification of six mutations (R3IL, 441delA, 681delC, 146lins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Hum Mutat 1995; 5:43-7
28. Cheng SH, Gregory RJ, Marshall J, et al. Defective- intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 1990; 63:827-34
29. Welsh MJ, Smith AK. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 1993; 73:1251-54
30. Engelhardt JF, Zepeda M, Chon JA, et al. Expression of the cystic fibrosis gene in adult human lung. J Clin Invest 1994; 93:737-49
31. Engelhardt JF, Yankaskas JR, Ernst SA, et al. Submucosal glands are the predominant site of CFTR expression in the human bronchus. Nature Genet 1992; 2:240-48
32. + transport in cystic fibrosis respiratory epithelia: abnormal basal rate and respouse to adenylate cyclase activation. J Clin Invest 1986; 78:1245-52
33. Boucher RC, Cheng EHC, Paradiso AM, et al. Chloride secretory respose of cystic fibrosis human airway epithelia: preservation of calcium but not protein kinase C- and A-dependent mechanisms. J Clin Invest 1989; 84:1424-31
34. Dituillo P, Cheng SH, Marshall J, et al. Production of cystic fibrosis transmembrane conductance regulator in the milk of transgenic mice. Biotechnology 1993; 10:74-7
35. Rosenfeld MA, Rosenfeld SJ, Danel C, et al. Increasing expression of the normal human CFTR cDNA in cystic fibrosis epithelial cells results in a progressive increase in the level of CFTR protein expression, but a limit on the level of cAMP-stimulated chloride secretion. Hum Gene Ther 1994; 5:1121-29
36. Schiav SC, Smith JM, Mcpherson JM, et al. High level expression of recombinant CFTR in heterologous cells leads to increased cell volume and G2/M growth arrest [abstract]. J Cell Biochem 1995; suppl 21A:371
37. Stutts MJ, Gabriel SE Olsen JC, et al. Functional consequences of heterologous expression of the cystic fibrosis transmembrane conductance regulator in fibroblasts. J Biol Chem 1993; 268: 20653-58
38. Whitsett JA, Dey CR, Strip BR, et al. Human cystic fibrosis transmembrane conductance regulator directed to respiratory epithelial cells of transgenic mice. Nature Genet 1992; 2:13-20
39. Johnson LG, Olsen JC, Sarkadi B, et al. Efficiency of gene transfer for restoration of normal airway epithelial function in cystic fibrosis. Nature Genet 1992; 2:21-5
40. Goldman MJ, Yang Y, Wilson JM. Gene therapy in a venograft model of cystic fibrosis lung corrects chloride transport more effectively than the sodium defect. Nature Genet 1995; 9:126-31
41. 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
42. Snouwaert JN, Brigman KK, Latour AM, et al. An animal model for cystic fibrosis made by gene targeting. Science 1992; 257: 1083-88
43. Dorin JR, Dickinson P, Alton EW, et al. Cystic fibrosis in the mouse by targeted insertional mutagenesis. Nature 1992; 359:211-15
44. Ratcliff R, Evans MJ, Cuthbert AW, et al. Production of a severe cystic fibrosis mutation in mice by gene targeting. Nature Genet 1993; 4:35-41
45. O'Neal WK, Hasty P, McCray PB Jr, et al. A severe phenotype in mice with a duplication of exon 3 in the cystic fibrosis locus. Hum Mol Genet 1993; 2:1561-69
46. Dorin JR, Stevenson BJ, Fleming S, et al. Long-term of survival of the exon 10 insertional cystic fibrosis mutant mouse is a consequence of low level residual wild type Cftr gene expression. Mann Genome 1994; 5:465-72
47. Davidson DJ, Dorin JR, McLachlan G, et al. Lung disease in the cystic fibrosis mouse exposed to bacterial pathogens. Nature Genet 1995; 9:351-57
48. Rosenfeld MA, Yoshimura K. Trapnell BC, et al. In vivo transfer of the human cystic fibrosis transmembrane conductance regulator gene to the airway epithelium. Cell 1992; 68:143-55
49. 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
50. Ginsberg HS, ed. The adenoviruses. New York: Plenum Press. 1984
51. Horowitz MS. Adenoviridae and their replication. In: Fields BN, Knipe DM, eds. Virology. New York: Raven Press, 1990: 1679-1740
52. Rosenfeld MA, Chu CS, Seth P, et al. Gene transfer to freshly isolated human respiratory epithelial cells in vitro using a replication-deficient adenovirus containing the human cystic fibrosis transmembrane conductance regulator cDNA. Hum Gene Ther 1994; 5:331-42
53. Mastrangeli A, Danel C, Rosenfeld MA, et al. Diversitv of airway epithelial cell targets for in vivo recombinant adenovirus-mediated gene transfer. J Clin Invest 1993; 91:225-34
54. Yei S, Mittereder N, Wert S, et al. In vivo evaluation of the safety of adenovirus-mediated transfer of the human cystic fibrosis transmembrane conductance regulator cDNA to the lung. Hum Gene Ther 1994; 5:733-46
55. Yang Y, Nunes FA, Berenesi K, et al. Inactivation of E2a in recombinant adenoviruses improves the prospect for gene therapy for cystic fibrosis. Nature Genet 1994; 7:362-69
56. Zabner J, Petersen DM, Puga AP, et al. Safety and efficacy of repetitive adenovirus-mediated transfer of CFTR cDNA to airway epithelia of primates and cotton rats. Nature Genet 1994; 6:75-83
57. Grubb BR, Pickles RJ, Ye H, et al. Inefficient gene transfer by adenovirus vector to cystic fibrosis airway epithelia of mice and humans. Nature 1994; 371:802-06
58. Engelhardt JF, Simon RH, Yang Y, et al. Adenovirus-mediated transfer of the CFTR gene to lung of nonhuman primates: biological efficacy study. Hum Gene Ther 1993; 4:759-69
59. Brody SL, Metzger M, Danel C, et al. Acute responses of non-human primates to airway delivery of an adenovirus vector containing the human cystic fibrosis transmembrane conductance regulator cDNA. Hum Gene Ther 1994; 5:821-36
60. Dupuit F, Bout A, Hinnrasky J, et al. Expression and localization of CFTR in the Rhesus monkey surface airway epithelium. Gene Ther 1995; 2:156-63
61. Rich DP, Couture LA, Cardoza LM, et al. Development and analysis of recombinant adenoviruses for gene therapy of cystic fibrosis. Hum Gene Ther 1993; 4:461-76
62. Englehardt JF, Yang Y, Stratford-Perricaudet LP, et al. Direct gene transfer of human CFTR into human bronchial epithelia of xenogrfts with E1-deleted adenoviruses. Nature Genet 1993; 4:27-34
63. Zabner J, Couture LA, Smith AE, et al. Correction of cAMP-stimulated fluid secretion in cystic fibrosis airway epithelia: efficiency of adenovirus-mediated gene transfer in vitro. Hum Gene Ther 1994; 5:585-93
64. Mittereder N, Yei S, Bachurski C, et al. Evaluation of the efficacy and safety of in vitro, adenovirus-mediated transfer of the human cystic fibrosis transmembrane conductance regulator cDNA. Hum Gene Ther 1994; 5:719-31
65. Yang Y, Li Q, Ertl HCJ, et al. Cellular and humoral immune response to viral antigens create barriers to lung-directed gene therapy with recombinant adenoviruses. J Virol 1995; 69:2004-15
66. Barr P, Tubb J, Ferguson P, et al. Strain related variations in adenovirally mediated transgene expression from mouse hepatocytes in vivo comparisons between immunocompetent and immunodeficient inbred strains. Gene Ther 1995; 2:151-55
67. McElvaney NG, Crystal RG, IL 6 release and air-way administration of human CFTR cDNA adenovirus vector. Nature Med 1995; 1:182-84
68. Yang Y, Nunes FA, Berenesi K, et al. Cellular immunity to viral antigens limits E1-deleted adenoviruses for gene therapy. Proc Natl Acad Sci USA 1994; 91:4407-11
69. Welsh MJ, Zabner J, Graham SM, et al. Adenovirus-mediated gene transfer for cystic fibrosis: part A: safety of dose and repeat administration in the nasal epithelium: part B: clinical effcacy in the maxillary sinus. Hum Gene Ther 1995; 6:205-18
70. Dorkin HL, Lapey A. Adenovirus mediated gene transfer for cystic fibrosis: safety of a single administration in the lung (lobar administration). NIH/Office of Recombinant DNA Activities (ORDA) approval: 10-5-94
71. Dorkin HL, Lapey A. Adenovirus mediated gene transfer for cystic fibrosis: safety of a single administration in the lung (aerosol administration). RAC approval: 12-1-94, NIH: approval pending
72. Trapnell BC, Yei S, Mittereder N, et al. Pharmalogic Immuno-modulation enhances repeated in vivo adenovirus-mediated gene transfer [abstract]. J Cell Biochem 1995; suppl 21A:415 C6449
73. Yei S, Mittereder N, Tang K, et al. Adenovirus-mediated gene transfer for cystic fibrosis: quantitative evaluation of repeated in vivo vector administration to the lung. Gene Ther 1994; 1:1-9
74. Mastrangeli A, Harvey BG, Yao J, et al. Efficient in vivo adenovirus-mediated gene transfer to the airway epithelium of animals immunized with different adenovirus serotypes. 1994 North American Cystic Fibrosis Meeting: Late Breaking Science S5a.6
75. Wilson JM, Engelhardt JF, Crossman M, et al. Gene therapy of cystic fibrosis lung disease using E1 deleted adenoviruses: a phase I trial. Hum Gene-Ther 1994; 5:501-19
76. Boucher RC, Knowles MR, Johnson LC, et al. Gene therapy for cystic fibrosis using E1-deleted adenovirus: a phase I trial in the nasal cavity. Hum Gene Ther 1994; 5:615-39
77. Wilmott RW, Whitsett JA, Trapnell BT, et al. Gene therapy tor cystic fibrosis utilizing a replication deficient recombinant adenovirus vector to deliver the human cystic fibrosis transmembrane conductance regulator cDNA to the airways: a phase I study. Hum Gene Ther 1994; 5:1019-57
78. Podsakoff O, Wong KK Jr, Chatterjee S.Efficient gene transfer into nondividing cells by adeno-associated virus-based vectors. J Virol 1994; 68:5656-66
79. Flotte TR, Afione SA, Zeitlin PL. Adeno-associated virus vector gene expression occurs in nondividing cells in the absence of vector DNA integration. Am J Respir Cell Mol Biol 1994; 11:517-21
80. Halbert CL, Alexander IE, Wolgamot GM, et al. Adeno-associated virus sectors transduce primary cells much less efficiently than immortalized cells. J Virol 1995; 69:1473-79
81. Samulski RJ, Adeno-associated virus: integration at a specific chromosomal locus. Curr Opin Genet Dev 1993: 3:74-80
82. Flotte TR, Afione SA, Conrad O, et al. Stable in vitro expression of the cystic fibrosis transmembrane conductance regulator with an adeno-associated virus sector. Proc Natl Acad Sci USA 1993; 90:10613-17
83. Flotte TR, Conrad O, Reynolds TZ, et al. Preclinical evaluation of AAV sectors expressing the human CFTR cDNA. J Cell Biochem [abstract]. 1995: suppl 21A:364 C6-112
84. Flotte TR. A phase I studs of an adeno-associated virus-CFTR gene vector in adult CF patients with mild lung disease. RAC approsal: 9-12-94. NIH approval: 11-15-94
85. Sorscher EJ, Logan JJ, Frizzell RA, et al. Gene therapy for cystic fibrosis using cationic liposome mediated gene transfer: a phase I trial of safety and efficacy in the nasal airway. Hum Gene Ther 1994; 5:1259-77
86. Fox EA, Roche ES, McClarrinon MK, et al. CFTR gene therapy: in vivo and in vitro expression [abstract]. J Cell Biochem 1995; suppl21A:364 C6-113
87. Hyde SC, Gill DR, Higgins CF et al. Correction of the ion transport defect in cystic fibrosis transgenic mice by gene therapy. Nature 1993; 362:250-55
88. Alton EWFW, Middleton FW, Caplen PG, et al. Noninvasive liposome mediated gene deliverry can correct the ion transport detect in cystic fibrosis mutant mice. Nature Genet 1993; 5:135-42
89. Zhong W, Liggett D, Liu Y, et al. Cationic liposomes-mediated. in vitro gene transfer and expression [abstract]. J Cell Bicohem 1995; suppl21A:358-C6013
90. Wu GY, Wu CH. Receptor-mediated gene delivery and expression in vitro. J Biol Chem 1988; 263:14621-24
91. Curiel DT, Agarwal S, Romer MU, et al. Gene transfer to respiratory epithelial cells via the receptor-mediated endoscytosis pathway. Am J Respir Cell Mol Biol 1992; 6:247-52
92. Gao L, Wagner E, Gotten M, et al. Direct in vivo gene transfer to airway employing adenovirus-polylysine-DNA complexes. Hum Gene Ther 1994; 4:17-24
93. Ferkol T, Kaetzel CS, Davis PB. Gene transfer into respiratory epithelial cells by targeting the polymeric immunoglobulin receptor. J Clin Invest 1993; 92:2394-2400
94. Ferkol T, Perales JC, Eckman E, et al. Gene transfer into the airway epithelium of animals by targeting the polymeric immunoglobulin receptor. J Glin Invest 1995; 95:493-502
95. Manquet M, Hotn N, Meek J, et al. Production of pharmaceutical grade plasmid DNA for gene therapy [abstract]. J Cell Biochem 1995; suppl21A:397
96. Shorr J, Welzek M, Seddon T, et al. Large scale purification of endotoxin-ree plasmid DNA for gene therapy research [abstract]. J Cell Biohem 1995; suppl21A:399
97. Caplen NJ, et al. Gene therapy for cystic fibrosis in humans by liposome mediated DNA transfer: the production of resources and the regulatory process. Gene Ther 1994; 2:1-9
98. Welsh MJ, Smith AE, Zabner J, et al. Cystic fibrosis gene therapy using an adenovirus vector: in vitro safety and efficacy in nasal epithelium. Hum Gene Ther 1994; 5:209-19
99. Crystal RC. A phase 1 study, in cystic fibrosis patients, of safety, toxicity, and biological efficacy of a single administration of a replication deficient, recombinant adenovirus carrying the cDNA of the normal cystic fibrosis transmbrane conductance regulator gene in the lung. Hum Gene Ther 1995; 6:643-66
100. Crystal RG. Evaluation of repeat administration of a replication deficient, recombinant adenovirus containing the normal cystic fibrosis transmembrane conductance regulator cDNA to the airways of individuals with cystic fibrosis. Hum Gene Ther 1995; 6:667-703
101. Knowles MR, Hohneker K., Zhon ZQ, et al. A double-blind vehicle-controlled study of adenoviral mediated gene transfer in the nasal epithelium of patients with cystic fibrosis N Engl J Med 1995; 333:823-31
102. Pavirani A, Bellon G. Transfer of the CFTR cDNA to cystic fibbrosis patients' airways by aerosol-mediated delivery of a recombinant adenovirus [abstract]. J Cell Biochem 1995; suppl21A:370
103. Caplen NJ, Alton EWFW, Middleton PG, et al. Liposome-mediated CFTR gene transfer to the nasal epithelium of patients with cystic fibrosis. Nature Med 1995; 1:39-46