Thrombosis and Haemostasis, Table of Contents Thromb Haemost 1995; 74(01): 266-273DOI: 10.1055/s-0038-1642688 Symposium Gene Therapy of Haemophilia A and B Schattauer GmbH Stuttgart State and Prospects of Gene Therapy for the Hemophilias Authors Author Affiliations Frits J Fallaux Laboratory of Molecular Carcinogenesis, Department of Medical Biochemistry, University of Leiden, Leiden, The Netherlands Rob C Hoeben Laboratory of Molecular Carcinogenesis, Department of Medical Biochemistry, University of Leiden, Leiden, The Netherlands Ernest Briët Department of Internal Medicine, Amsterdam Medical Center, Amsterdam, The Netherlands Recommend Article Abstract PDF Download(opens in new window) Buy Article(opens in new window) PDF (459 kb) References References 1 Antonarakis SE, Kazazian HH, Tuddenham EG D. Molecular etiology of factor VIII deficiency in hemophilia A. Hum Mut 1995; 5: 1-22 2 Rosendaal FR, Smit C, Brief E. Hemophilia treatment in historical perspective a review of medical and social developments. Ann Hematol 1991; 62: 5-15 3 Peake IR, Lillicrap DP, Boulyjenkov V, Briet E, Chan V, Ginter EK, Kraus EM, Ljung R, Mannucci PM, Nicolaides K, Tuddenham EG. Haemophilia - strategies for carrier detection and prenatal diagnosis. Bull World Health Organ 1993; 71: 429-458 4 Lusher JM, Arkin S, Abildgaard CF, Schwartz RS. Recombinant factor VIII for the treatment of previously untreated patients with hemophilia A Safety efficacy and development of inhibitors Kogenate Previously Untreated Patient Study Group. N Engl J Med 1993; 328: 453-459 5 Kaufman RJ, Wasley LC, Dorner AJ. Synthesis processing and secretion of recombinant human factor VIII expressed in mammalian cells. I Biol Chem 1988; 263: 6352-6362 6 Graham FL, Van der Eb AJ. A new technique for the assay of infectivity of human adenovirus 5 DNA. Virology 1973; 52: 456-467 7 Thompson AR, Palmer TD, Lynch CM, Miller AD. Gene transfer as an approach to cure patients with hemophilia A or B. Curr Stud Hematol Blood Transfus 1991; 59-62 8 Hoeben RC, Valerio D, Van der Eb AJ, Van Ormondt H. Gene therapy for human inherited disorders techniques and status. Crit Rev Oncol Hematol 1992; 13: 33-54 9 van Dieijen G, van Rijn JL, Govers Riemslag JW, Hemker HC, Rosing J. Assembly of the intrinsic factor X activating complex- interactions between factor IXa factor Villa and phospholipid. Thromb Haemost 1985; 53: 396-400 10 Gaucher C, Jorieux S, Mercier B, Oufkir D, Mazurier C. The "Normandy" variant of von Willebrand disease characterization of a point mutation in the von Willebrand factor gene. Blood 1991; 77: 1937-1941 11 Mazurier C, Dieval J, Jorieux S, Delobel J, Goudemand M. A new von Willebrand factor (vWF) defect in a patient with factor VIII (FVIII) deficiency but with normal levels and multimeric patterns of both plasma and platelet vWF Characterization of abnormal vWF/FVIII interaction. Blood 1990; 75: 20-26 12 Mazurier C, Gaucher C, Jorieux S, Parquet GernezA, Goudemand M. Evidence for a von Willebrand factor defect in factor VIII binding in three members of a family previously misdiagnosed mild haemophilia A and haemophilia A carriers consequences for therapy and genetic counselling. Br J Haematol 1990; 76: 372-379 13 Kaufman RJ. Genetic engineering of factor VIII. Nature 1989; 342: 207-208 14 Kaufman RJ. Expression and structure-function properties of recombinant factor VIII. Transfus Med Rev 1992; 6: 235-246 15 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 16 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 17 Hoeben RC, Fallaux FJ, Cramer SJ, Van den Wollenberg DJ M, Van Ormondt H, Van der Eb AJ. Expression of the blood-clotting factor-VIII cDNA is repressed by a transcriptional silencer located in its coding region. 1995 accepted for publication 18 Thompson L. Stem-cell gene therapy moves toward approval [news]. Science 1992; 255: 1072 19 Miller AD, Miller DG, Garcia JV, Lynch CM. Use of retroviral vectors for gene transfer and expression. Methods Enzymol 1993; 217: 581-599 20 Anson DS, Hock RA, Austen D, Smith KJ, Brownlee GG, Verma IM, Miller AD. Towards gene therapy for hemophilia B. Mol Biol Med 1987; 4: 11-20 21 StLouis D, Verma IM. An alternative approach to somatic cell gene therapy. Proc Natl Acad Sci USA 1988; 85: 3150-3154 22 Palmer TD, Thompson AR, Miller AD. Production of human factor IX in animals by genetically modified skin fibroblasts potential therapy for hemophilia B. Blood 1989; 73: 438-445 23 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 USA 1991; 88: 1330-1334 24 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 25 Gerrard AJ, Hudson DL, Brownlee GG, Watt FM. Towards gene therapy for haemophilia B using primary human keratinocytes. Nat Genet 1993; 3: 180-183 26 Yao SN, Wilson JM, Nabel EG, Kurachi S, Hachiya HL, Kurachi K. Expression of human factor IX in rat capillary endothelial cells toward somatic gene therapy for hemophilia B. Proc Natl Acad Sci USA 1991; 88: 8101-8105 27 Axelrod JH, Read MS, Brinkhous KM, Verma IM. Phenotypic correction of factor IX deficiency in skin fibroblasts of hemophilic dogs. Proc Natl Acad Sci USA 1990; 87: 5173-5177 28 Yao SN, Kurachi K. Expression of human factor IX in mice after injection of genetically modified myoblasts. Proc Natl Acad Sci USA 1992; 89: 3357-3361 29 Roman M, Axelrod JH, Dai Y, Naviaux RK, Friedmann T, Verma IM. Circulating human or canine factor IX from retrovirally transduced primary myoblasts and established myoblast cell lines grafted into murine skeletal muscle. Somat Cell Mol Genet 1992; 18: 247-258 30 Dai Y, Roman M, Naviaux RK, Verma IM. Gene therapy via primary myoblasts long-term expression of factor IX protein following transplantation in vivo. Proc Natl Acad Sci USA 1992; 89: 10892-10895 31 Armentano D, Thompson AR, Darlington G, Woo SL. Expression of human factor IX in rabbit hepatocytes by retrovirus-mediated gene transfer potential for gene therapy of hemophilia B. Proc Natl Acad Sci USA 1990; 87: 6141-6145 32 Koch KS, Brownlee GG, Goss SJ, Martinez CondeA, Leffert HL. Retroviral vector infection and transplantation in rats of primary fetal rat hepatocytes. J Cell Sci 1991; 99: 121-130 33 Ferry N, Duplessis O, Houssin D, Danos O, Heard JM. Retroviral- mediated gene transfer into hepatocytes in vivo. Proc Natl Acad Sci USA 1991; 88: 8377-8381 34 Kay MA, Rothenberg S, Landen CN, Bellinger DA, Leland F, Toman C, Finegold M, Thompson AR, Read MS, Brinkhous KM. et al In vivo gene therapy of hemophilia B sustained partial correction in factor IX-deficient dogs [see comments]. Science 1993; 262: 117-119 35 Graham FL, Prevec L. Manipulation of adenovirus vectors. In Methods in Molecular Biology Vol7 Gene Transfer and Expression Protocols Murray JE J. (ed) Humana Press; Clifton NJ : 1991. pp 109-128 36 Perricaudet M, Stratford-Perricaudet LD, Briand P. Gene therapy using adenovirus vectors. Recherche 1992; 23: 471-473 37 Graham FL, Smiley J, Russel WC, Nairn R. Characteristics of a human cell line transformed by DNA from human adenovirus type. J Gen Virol 1977; 36: 59-74 38 Fallaux FJ, Kranenburg O, Cramer SJ, Houweling A, Van Ormondt H, Hoeben RC, Van der Eb AJ. Characterization of 911 a new helper cell line for the titration and propagation of early-region-1- deleted adenoviral vectors. 1995 submitted for publication 39 Horwitz MS. Adenoviridae and their replication. In Virology. Fields BN, Knipe DM. et al (eds) Raven Press Ltd; New York: 1990. pp 1679-1721 40 Smith TA, 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 41 Kay MA, Landen CN, Rothenberg SR, Taylor LA, Leland F, Wiehle S, Fang B, Bellinger D, Finegold M, Thompson AR. et al In vivo hepatic gene therapy complete albeit transient correction of factor IX deficiency in hemophilia B dogs. Proc Natl Acad Sci USA 1994; 91: 2353-2357 42 Yang Y, Nunes FA, Berencsi K, Furth EE, Gonczol E, Wilson JM. Cellular immunity to viral antigens limits El-deleted adenoviruses for gene therapy. Proc Natl Acad Sci USA 1994; 91: 4407-4411 43 Engelhardt JF, Litzky L, Wilson JM. Prolonged transgene expression in Cotton Rat lung with recombinant adenoviruses defective in E2a. Hum Gene Ther 1994; 5: 1217-1229 44 Cristiano RJ, Smith LC, Kay MA, Brinkley BR, Woo SL. Hepatic gene therapy efficient gene delivery and expression in primary hepatocytes utilizing a conjugated adenovirus-DNA complex. Proc Natl Acad Sci USA 1993; 90: 11548-11552 45 Lozier JN L, Brinkhous KM. Gene therapy and the hemophilias. JAMA 1994; 271: 47-51 46 Ferkol T, Lindberg GL, Chen J, Perales JC, Crawford DR, Ratnoff OD, Hanson RW. Regulation of the phosphoenolpyruvate carboxy- kinase/human factor IX gene introduced into the livers of adult rats by receptor-mediated gene transfer. FASEB J 1993; 7: 1081-1091 47 Liu HW, Ofosu FA, Chang PL. Expression of human factor IX by microencapsulated recombinant fibroblasts. Hum Gene Ther 1993; 4: 291-301 48 Hoeben RC, Van der Jagt RC, Schoute F, van Tilburg NH, Verbeet MP, Briet 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 49 Hoeben RC, van Tilburg NH, Briet E, Van Ormondt H, Van der Eb Al. Towards gene therapy in hemophilia A Expression of factor VIII with a retroviral vector system. Thromb Haemost 1989; 62: 209 Abstract 50 Israel DI, Kaufman RJ. Retroviral-mediated transfer and amplification of a functional human factor VIII gene. Blood 1990; 75: 1074-1080 51 Lynch CM, Israel DI, Miller AD. Towards somatic cell gene therapy using endothelial cells. J Cell Biochem 1990; 14E: 222 Abstract 52 Rafield LF, Cohen JL, Brauer PP. Expression and secretion of human factor VIII by canine endothelial cells and mouse fibroblasts using retroviral-mediated gene transfer. Blood 1990; 76: 434a Abstract 53 Hoeben RC, Einerhand MP W, Briet 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 hematopoietic progenitor cells. Thromb Haemost 1992; 67: 341-345 54 Hoeben RC, Fallaux FJ, van Tilburg NH, Cramer SJ, Van Ormondt H, Briet E, Van der Eb AJ. Toward gene therapy for hemophilia A long-term persistence of factor VUI-secreting fibroblasts after transplantation into immunodeficient mice. Hum Gene Ther 1993; 4: 179-186 55 Fallaux FJ, Hoeben RC, Cramer SJ, Van den Wollenberg DJM, Briet E, Van Ormondt H, Van der Eb AJ. Repression of transcription by coding sequences of blood-clotting factor-VIII cDNA can be relieved by short-chain fatty acids. 1995 submitted for publication 56 Zatloukal K, Cotten M, Berger M, Schmidt W, Wagner E, Birnstiel ML. In vivo production of human factor VIII in mice after intra- splenic implantation of primary fibroblasts transfected by receptor- mediated adenovirus-augmented gene delivery. Proc Natl Acad Sci USA 1994; 91: 5184-5188 57 Evans JP, Brinkhous KM, Brayer GD, Reisner HM, High KA. Canine hemophilia B resulting from a point mutation with unusual consequences. Proc Natl Acad Sci USA 1989; 86: 10095-10099 58 Wu CH, Wilson JM, Wu GY. Targeting genes delivery and persistent expression of a foreign gene driven by mammalian regulatory elements in vivo. J Biol Chem 1989; 264: 16985-16987 59 Wu GY, Wu CH. Receptor-mediated gene delivery and expression in vivo. J Biol Chem 1988; 263: 14621-14624 60 Wolff JA, Malone RW, Williams P, Chong W, Acsadi G, Jani A, Feigner PL. Direct gene transfer into mouse muscle in vivo. Science 1990; 247: 1465-1468 61 Feigner PL, Rhodes G. Gene therapeutics. Nature 1991; 349: 351-352 62 Veltkamp JJ, Van de Torren K, Schalm SW, Van der Does J, Epstein RH, Terpstra JL. Organ transplantation in canine hemophilia. International Congress Series Haemophilia Proc Vllth Congr World Federation 1971; 19-25 63 Anderson WF. Prospects for human gene therapy. Science 1984; 226: 401-409 64 Friedmann T. Progress toward human gene therapy. Science 1989; 244: 1275-1281
