Gene therapy for hemophilia A

Thrombosis and Haemostasis

Volumn 78, Issue 1, 1997, Pages 31-36

  Connelly, Sheila ^a   Kaleko, Michael ^a  

^a NOVARTIS PHARMA AG   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8;

ANIMAL EXPERIMENT; ANIMAL MODEL; BLEEDING DISORDER; CELL CULTURE; CLONING VECTOR; CONFERENCE PAPER; CONTROLLED STUDY; GENE EXPRESSION; GENE TARGETING; GENE THERAPY; GENE TRANSFER; HEMOPHILIA A; HUMAN; HUMAN CELL; NONHUMAN; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN EXPRESSION;

EID: 0030797290     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0038-1657496     Document Type: Conference Paper

References (70)

1. Sadler JE, Davie EW. Hemophilia A, hemophilia B, and von Willebrand's disease. In: The Molecular Basis of Blood Diseases. Nienhuis AW, Leder P, Majerus PW, eds.W.B. Saunders Co. New York 1987; pp 575-598.
2. Aledort L. Inhibitors in hemophilia patients: Current status and management. Am J Hemat 1994; 47:208-217.
3. Lozier JN, Brinkhous KM. Gene therapy and the hemophilias. JAMA 1994; 271:47-51.
4. Fallaux FJ, Hoeben RC, Briët E. State and prospects of gene therapy for the hemophilias. Thromb Haemost 1995; 74:263-273.
5. Hoeben RC. Gene therapy for the haemophilias: current status. Biologicals 1995; 23:27-29.
6. Smith TAG. Gene therapy for haemophilia. Exp Opin Invest Drugs 1995; 4:833-842.
7. Wood WI, Capon DJ, Simonsen CC, Eaton DL, Gitschier J, Keyt B, Seeburg PH, Smith DH, Hollingshead P, Wion KL, Delwart E, Tuddenham EGD, Vehar GA, Lawn RM. Expression of active human factor VIII from recombinant DNA cloned. Nature 1984; 312:330-337.
8. Toole JJ, Knopf JL, Wozney JM, Sultzman PA, Buecker J, Pittman DD, Kaufman RJ, Brown E, Shoemaker C, Orr EC, Amphlett GW, Foster WB, Coe ML, Knutson GJ, Fass DN, Hewick RM. Molecular cloning of a cDNA encoding antihemophiliac factor. Nature 1984; 312:342-346.
9. Elder B, Lakich D, Gitschier J. Sequence of the murine factor VIII cDNA. Genomics 1993; 16:374-379.
10. Healey JF, Lubin IM, Lollar P. The cDNA and derived amino acid sequence of porcine factor VIII. Blood 1996; 88:4209-4214.
11. Kaufman RJ. Biological regulation of factor VIII activity. Annu Rev Med 1992; 43:325-339.
12. Vehar GA, Lawn RM, Tuddenham EGD, Wood WI. Factor VIII and factor V: Biochemistry and Pathophysiology. In: Biotechnology of plasma proteins. Curr Stud Hematol Blood Transf. Albertini A, Lenfant CL, Mannucci PM, Sixma JJ, eds.Karger, Basel 1991; pp 2155-2170.
13. Hoyer LW, Wyshock EG, Colman RW. Coagulation Cofactors: Factors V and VIII. In: Hemostasis and Thrombosis: Basic Principles and Clinical Practice. Colman RW, Hirsh J, Marder VJ, Salzman EW, eds.J.B. Lippincott Co. Philadelphia 1994; pp 109-133.
14. Eaton DL, Wood WI, Eaton D, Hass PE, Hollingshead P, Wion K, Mather J, Lawn RM, Vehar GA, Gorman C. Construction and characterization of an active factor VIII variant lacking the central one-third of the molecule. Biochem 1986; 25:1-2.
15. Toole JJ, Pittman DD, Orr EC, Murtha P, Wasley LC, Kaufman RJ. A large region (_95 kDa) of human factor VIII is dispensable for in vitro procoagulant activity. Proc Natl Acad Sci USA 1986; 83:5939-5942.
16. Pittman DD, Alderman EM, Tomkinson KN, Wang JH, Giles AR, Kaufman RJ. Biochemical, Immunological, and in vivo functional characterization of B-domain-deleted factor VIII. Blood 1993; 81:2925-2935.
17. Dwarki VJ, Belloni P, Nijjar T, Smith J, Couto L, Rabier M, Clift S, Berns A, Cohen LK. Gene therapy for hemophilia A: Production of therapeutic levels of human factor VIII in vivo in mice. Proc Natl Acad Sci USA 1995; 92:1023-1027.
18. Kaufman RJ, Wasley LC, Dorner AJ. Synthesis, processing, and secretion of recombinant human factor VIII. expressed in mammalian cells. J Biol Chem 1988; 263:6352-6362.
19. Kaufman RJ, Wasley LC, Davies MV, Wise RJ, Israel DI, Dorner AJ. Effect of von Willebrand factor coexpression on the synthesis and secretion of factor VIII in Chinese hamster ovary cells. Mol Cell Biol 1989; 9:1233-1242.
20. Lynch CM, Israel DI, Kaufman RJ, Miller AD. Sequences in the coding region of clotting factor VIII act as dominant inhibitors of RNA accumulation and protein production. Hum Gene Ther 1993; 4:259-272.
21. Hoeben RC, Fallaux FJ, Cramer SJ, van den Wollenberg JM, Van Ormondt H, Briët E, Van Der Eb AJ. Expression of the blood-clotting factor-VIII cDNA is repressed by a transcriptional silencer located in its coding region. Blood 1995; 85:2447-2454.
22. Koeberl DD, Halbert CL, Krumm A, Miller AD. Sequences within the coding regions of clotting factor VIII and CFTR block transcriptional elongation. Hum Gene Ther 1995; 6:469-479.
23. Chuah MKL, Vandendriessche T, Morgan RA. Development and analysis of retroviral vectors expressing human factor VIII as a potential gene therapy for hemophilia A. Hum Gene Ther 1995; 6:1363-1377.
24. Miller DG, Adam MA, Miller AD. Gene transfer by retrovirus vectors occurs only in cells that are actively replicating at the time of infection. Mol Cell Biol 1990; 10:4239-4242.
25. Hoeben RC, van der Jagt RC, Schoute F, Van Tilburg NH, Verbeet MP, Briët E, Van Ormondt H, Van Der Eb AJ. Expression of functional factor VIII in primary human skin fibroblasts after retrovirus-mediated gene transfer. J Biol Chem 1990; 265:7318-7323.
26. Hoeben RC, Einerhand MP, Briët E, Van Ormondt H, Valerio D, Van Der Eb AJ. Toward gene therapy in haemophilia A: Retrovirus-mediated transfer of a factor VIII gene into murine haematopoietic progenitor cells. Thromb Haemost 1992; 67:341-345.
27. Hoeben RC, Fallaux FJ, Van Tilburg NH, Cramer SJ, Van Ormondt H, Briët E, Van Der Eb AJ. Toward gene therapy for hemophilia A: long-term persistence of factor VIII-secreting fibroblasts after transplantation into immunodeficient mice. Hum Gene Ther 1993; 4:179-186.
28. Israel DI, Kaufman RJ. Retroviral-mediated transfer and amplification of a functional human factor VIII gene. Blood 1990; 75:1074-1080.
29. Krall WJ, Skelton DC, Yu X, Riviere I, Lehn P, Mulligan RC, Kohn DB. Increased levels of spliced RNA account for augmented expression from the MFG retroviral vector in hematopoietic cells. Gene Ther 1996; 3:37-48.
30. Zatloukal K, Cotten M, Berger M, Schmidt W, Wagner E, Birnstiel ML. In vivo production of human factor VIII in mice after intrasplenic implantation of primary fibroblasts transfected by receptor-mediated, adenovirus-augmented gene delivery. Proc Natl Acad Sci USA 1994; 91:5148-5152.
31. Brauker JH, Carr-Brendel VE, Martinson LA, Crudele J, Johnston WD, Johnson RC. Neovascularization of synthetic membranes directed by membrane microarchitecture. J Biomed Mater Res 1995; 29:1517-1524.
32. Brauker J, Dwarki V, Carr-Brendel V, Nijjar T, Vergoth C, Chen R, Cohen L, Danos O, Mulligan R, Johnson RC. Expression of human factor IX in rats and mice from cells implanted within an immunoisolation device. [Abstract] J Cell Biochem 1995; Supplement 21A:375.
33. Berkner KL. Development of adenovirus vectors for the expression of heterologous genes. Biotechniques 1988; 6:616-629.
34. Trapnell BC, Gorziglia M. Gene therapy using adenoviral vectors. Curr Opin Biotechnol 1994; 5:617-625.
35. Connelly S, Smith TAG, Dhir G, Gardner JM, Mehaffey MG, Zaret KS, McClelland A, Kaleko M. In vivo gene delivery and expression of physiological levels of functional human factor VIII in mice. Hum Gene Ther 1995; 6:185-193.
36. Connelly S, Gardner JM, McClelland A, Kaleko M. High level tissue-specific expression of functional human FVIII in mice. Hum Gene Ther 1996; 7:183-195.
37. Connelly S, Gardner JM, Lyons RM, McClelland A, Kaleko M. Sustained expression of therapeutic levels of human factor VIII in mice. Blood 1996; 87:4671-4677.
38. Connelly S, Mount J, Mauser A, Gardner JM, Kaleko M, McClelland A, Lothrop CD. Complete short-term correction of canine hemophilia A by in vivo gene therapy. Blood 1996; 88:3846-3853.
39. Smith TAG, Mehaffey MG, Kayda DB, Saunders JM, Yei S, Trapnell BC, McClelland A, Kaleko M. Adenovirus-mediated expression of therapeutic plasma levels of human factor IX in mice. Nat Genet 1993; 5:397-402.
40. Tinlin S, Webster S, Giles AR. The development of homologous (canine/anti-canine) antibodies in dogs with haemophilia A (factor VIII deficiency): A ten-year longitudinal study. Thrombosis and Haemostasis 1993; 69:21-24.
41. Bi L, Lawler AM, Antonarakis SE, High KA, Gerhart JD, Kazazian HH. Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A. Nature Genetics 1995; 10:119-121.
42. Dorner AJ, Bole DG, Kaufman RJ. The relationship of N-linked glycosylation and heavy chain-binding protein association with the secretion of glycoproteins. J Cell Biol 1987; 105:2665-2674.
43. Yang Y, Ertl HCJ, Wilson JM. MHC class I-restricted cytotoxic T lymphocytes to viral antigens destroy hepatocytes in mice infected with E1-deleted recombinant adenoviruses. Immun 1994; 1:433-442.
44. Yang Y, Nunes FA, Berencsi K, Furth EE, Gönczöl E, Wilson JM. Cellular immunity to viral antigens limits E1-deleted adenoviruses for gene therapy. Proc Natl Acad Sci USA 1994; 91:4407-4411.
45. Armentano D, Sookdeo CC, Hehir KM, Gregory RJ, St.George JA, Prince GA, Wadsworth SC, Smith AE. Characterization of an adenovirus gene transfer vector containing an E4 deletion. Hum Gene Ther 1995; 6:1343-1353.
46. Wang Q, Jia X, Finer MH. A packaging cell line for pro-pagation of recombinant adenovirus vectors containing two lethal genregion deletions. Gene Therapy 1995; 2:775-783.
47. Yeh P, Dedieu JF, Orsini C, Vigne E, Denefle P, Perricaudet M. Efficient dual transcomplementation of adenovirus E1 and E4 regions from a 293-derived cell line expressing a minimal E4 functional unit. J Virol 1996; 70:559-565.
48. Gao G, Yang Y, Wilson JM. Biology of adenovirus vectors with E1 and E4 deletions for liver-directed gene therapy. J Virol 1996; 70:8934-8943.
49. Gorziglia MI, Kadan MJ, Yei S, Lim J, Lee GM, Luthra R, Trapnell BC. Elimination of both E1 and E2a from adenovirus vectors further improves prospects for in vivo human gene therapy. J Virol 1996; 6:4173-4178.
50. Kochanek S, Clemens PR, Mitani K, Chen H, Chan S, Caskey CT. A new adenoviral vector: replacement of all viral coding sequences with 28 kb of DNA independently expressing both full-length dystrophin and beta-galactosidase. Proc Natl Acad Sci USA 1996; 93:5731-5736.
51. Clemens PR, Kochanek S, Sunada Y, Chan S, Chen H, Campbell KP, Caskey CT. In vivo muscle gene transfer of full-length dystrophin with an adenoviral vector that lacks all viral genes. Gene Therapy 1996; 3:965-972.
52. Lieber A, He C, Kirillova I, Kay MA. Recombinant adenoviruses with large deletions generated by cre-mediated excision exhibit different biological properties compared with first-generation vectors in vitro and in vivo. J Virol 1996; 70:8944-8960.
53. Haecker SE, Stedman HH, Balice-Gordon RJ, Smith DBJ, Greelish JP, Mitchell MA, Wells A, Sweeney HL, Wilson JM. In vivo expression of full-length human dystrophin from adenoviral vectors deleted of all viral genes. HGT 1996; 7:1907-1914.
54. Kumar-Singh R, Chamberlain JS. Encapsidated adenovirus minichromosomes allow delivery and expression of a 14kb dystrophin cDNA to muscle cells. Hum Mol Gen 1996; 5:913-921.
55. Smith TAG, White BD, Gardner JM, Kaleko M, McClelland A. Transient immunosuppression permits successful repetitive intravenous administration of an adenovirus vector. Gene Therapy 1996; 3:496-502.
56. 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. Nature Medicine 1995; 1:890-893.
57. Yang Y, Greenough K, and Wilson JM. Transient immune blockade prevents formation of neutralizing antibody to recombinant adenovirus and allows repeated gene transfer to mouse liver. Gene Therapy 1996; 3: 412-420.
58. Bosch A, McCray PB, Chang SMW, Ulich TR, Simonet WS, Jolly DJ, Davidson BL. Proliferation induced by keratinocyte growth factor enhances in vivo retroviral-mediated gene transfer to mouse hepatocytes. J Clin Invest 1996; 98:2683-2687.
59. Naldini L, Blomer U, Gallay P, Ory D, Mulligan R, Gage FH, Verma IM, Trono D. In vivo gene delivery and stable transduction of nondividing cells by a lentiviral vector. Science 1996; 272:263-267.
60. Naldini L, Blomer U, Gage FH, Trono D, Verma IM. Efficient transfer, integration, and sustained long-term expression of the transgene in adult rat brains injected with a lentiviral vector. Proc Natl Acad Sci USA 1996; 93:11382-11388.
61. Scharfmann R, Axelrod JH, Verma IM. Long-term in vivo expression of retrovirus-mediated gene transfer in mouse fibroblast implants. Proc Natl Acad Sci USA 1991; 88:4626-4630.
62. Palmer TD, Rosman GJ, Osborne WR, Miller AD. Genetically modified skin fibroblasts persist long after transplantation but gradually inactivate introduced genes. Proc Natl Acad Sci U S A 1991; 88:1330-1334.
63. Corbeau P, Kraus G, Wong-Stall F. Efficient gene transfer by a human immunodeficiency virus type 1 (HTV-1)-derived vector utilizing a stable HIV packaging cell line. Proc Natl Acad Sci USA 1996; 93:14070-14075.
64. Kotin RM. Prospects for the use of adeno-associated virus as a vector for human gene therapy. Hum Gene Ther 1994; 5:793-801.
65. Xiao X, Li J, Samulski RJ. Efficient long-term gene transfer into muscle tissue of immunocompetent mice by adeno-associated virus vector. J Virol 1996; 70:8098-8108.
66. McCown TJ, Xiao X, Li J, Breese GR, Samulski RJ. Differential and persistent expression patterns of CNS gene transfer by an adeno-associated virus (AAV) vector. Brain Res 1996; 713:99-107.
67. Gnatenki D, Hearing P, Gergel J, Jesty J, Bahou W. Generation and characterization of recombinant adeno-associated viral (rAAV) vectors for factor VIII gene therapy. [Abstract] Blood 1996; 88:139.
68. Wu GY, Wu CH. Receptor-mediated gene delivery and expression in vivo. J Biol Chem 1988; 263:14621-14624.
69. Perales JC, Ferkol T, Beegen H, Ratnoff OD, Hanson RW. Gene transfer in vivo: Sustained expression and regulation of genes introduced into the liver by receptor-targeted uptake. Proc Natl Acad Sci USA 1994; 91:4086-4090.
70. Ill CR, Yang CO, Bidlingmaier SM, Gonzales JN, Bartholomew RM, Scuderi P. Engineering the human factor VIII cDNA for targeted gene therapy. [Abstract] Thromb Haemost 1997; ISTH.in press.