Clinical gene transfer studies for hemophilia B

Seminars in Thrombosis and Hemostasis

Volumn 30, Issue 2, 2004, Pages 257-267

  High, Katherine A ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

Adeno associated virus; Factor IX; Gene therapy; Hemophilia B

Indexed keywords

ADENOVIRUS VECTOR; RECOMBINANT BLOOD CLOTTING FACTOR 9;

ADULT; BACKACHE; CLINICAL ARTICLE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DOSE CALCULATION; DRUG SAFETY; FOOD AND DRUG ADMINISTRATION; GENE EXPRESSION; GENE TRANSFER; GENETIC TRANSDUCTION; HEADACHE; HEMATOMA; HEMOPHILIA B; HUMAN; IMMUNOFLUORESCENCE; INFLAMMATORY INFILTRATE; INJECTION PAIN; MALE; MUSCLE BIOPSY; PARESTHESIA; PRIORITY JOURNAL; REVIEW; SINUSITIS; SOUTHERN BLOTTING; TARGET CELL; TRANSGENE; VIRAL GENE THERAPY;

CLINICAL TRIALS; FACTOR IX; GENE THERAPY; GENE TRANSFER TECHNIQUES; HEMOPHILIA B; HUMANS; LIVER; MUSCLES; TREATMENT OUTCOME;

EID: 2342457825     PISSN: 00946176     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2004-825639     Document Type: Review

References (58)

1. 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
2. Mauser AE, Whitney KM, Lothrop CD Jr. A deletion mutation causes hemophilia B in Lhasa apso dogs. Blood 1996;88:3451-3455
3. Couto LB. Preclinical gene therapy studies for hemophilia using adeno-associated virus (AAV) vectors. Semin Throm Hemost 2004;30:161-172
4. Herzog R, Hagstrom N, Kung S, et al. Stable gene transfer and expression of human FIX following intramuscular injection of recombinant AAV. Proc Natl Acad Sci USA 1997;94:5804-5809
5. Herzog R, Yang E, Couto L, et al. Long-term correction of canine hemophilia B by gene transfer of blood coagulation factor IX mediated by adeno-associated viral vector. Nat Med 1999;5:56-63
6. Snyder RO, Miao CH, Patijn GA, et al. Persistent and therapeutic concentrations of human factor IX in mice after hepatic gene transfer of recombinant AAV vectors. Nat Genet 1997;16:270-276
7. Snyder RO, Miao C, Meuse L, et al. Correction of hemophilia B in canine and murine models using recombinant adeno-associated viral vectors. Nat Med 1999;5:64-70
8. Balagué C, Zhou J, Dai Y, et al. Sustained high-level expression of full-length human factor VIII and restoration of clotting activity in hemophilic mice using a minimal adenovirus vector. Blood 2000;95:820-828
9. Gallo-Penn AM, Shirley PS, Andrews JL, et al. Systemic delivery of an adenoviral vector encoding canine factor VIII results in short-term phenotypic correction, inhibitor development, and biphasic liver toxicity in hemophilia A dogs. Blood 2001;97:107-113
10. Monahan PE, Samulski RJ, Tazelaar J, et al. Direct intramuscular injection with recombinant AAV vectors results in sustained expression in a dog model of hemophilia. Gene Ther 1998;5:40-49
11. Mount JD, Herzog RW, Tillson DM, et al. Sustained phenotype correction of hemophilia B dogs with a factor IX null mutation by liver-directed gene therapy. Blood 2002;99: 2670-2676
12. Wagner JA, Reynolds T, Moran ML, et al. Efficient and persistent gene transfer of AAV-CFTR in maxillary sinus. Lancet 1998;351:1702-1703
13. 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. Hum Gene Ther 1998;9:889-909
14. Department of Health and Human Services National Institutes of Health Recombinant DNA Advisory Committee. Minutes of Meeting, March 11-12, 1999. Bethesda, MD: NIH. Available at: http://www4.od.nih.gov/oba/rac/ minutes/3-99RAC.htm. Accessed March 18, 2004
15. Arruda VR, Hagstrom JN, Deitch J, et al. Posttranslational modifications of recombinant myotube-synthesized human factor IX. Blood 2001;97:130-138
16. Pollak ES, High KA. Hemophilia B factor IX deficiency. In: Sciver CR, Beaudet AL, Valle D, Sly WS, eds. The Metabolic and Molecular Bases of Inherited Diseases, 8th Ed. New York: McGraw-Hill; 2001:4393-4418
17. Lofqvist T, Nilsson IM, Berntorp E, Pettersson H. Haemophilia prophylaxis in young patients - a long term follow up. J Intern Med 1997;241:395-400
18. Kay MA, Manno CS, Ragni MV, et al. Evidence for gene transfer and expression of factor IX in haemophilia B patients treated with an AAV vector. Nat Genet 2000;24:257-261
19. Manno CS, Chew AJ, Hutchison S, et al. AAV-mediated factor IX gene transfer to skeletal muscle in patients with severe hemophilia B. Blood 2003;101:2963-2972
20. Dimichele D. Inhibitors: resolving diagnostic and therapeutic dilemmas. Haemophilia 2002;8:280-287
21. Donsante A, Vogler C, Muzyczka N, et al. Observed incidence of tumorigenesis in long-term rodent studies of rAAV vectors. Gene Ther 2001;8:1291-1298
22. Summerford C, Samulski RJ. Membrane-associated heparan sulfate proteoglycan is a receptor for adeno-associated virus type 2 virions. J Virol 1998;72:1438-1445
23. Qing K, Mah C, Hansen J, et al. Human fibroblast growth factor receptor 1 is a co-receptor for infection by adeno-associated virus 2. Nat Med 1999;5:71-77
24. Herzog RW, Fields PA, Arruda VR, et al. Influence of vector dose on factor IX-specific T and B cell responses in muscle-directed gene therapy. Hum Gene Ther 2002;13:1281-1291
25. Arruda VR, Schuettrumpf J, Herzog RW, et al. Safety and efficacy of factor IX gene transfer to skeletal muscle in murine and canine hemophilia B models by adeno-associated viral vector serotype 1. Blood 2004;103:85-92
26. Chao H, Liu Y, Rabinowitz J, et al. Several log increase in therapeutic transgene delivery by distinct adeno-associated viral serotype vectors. Mol Ther 2000;2:619-623
27. Arruda VR, Stedman H, Nichols TC, et al. Sustained correction of hemophilia B phenotype following intravascular delivery of AAV vector to skeletal muscle. Mol Ther 2002; 5:S157
28. Orkin SH, Motulsky AG. Report and recommendations of the panel to assess the NIH investment in research on gene therapy. Bethesda, MD: National Institutes of Health, 1995. Available at: http//www.nih.gov/od/orda/panelrep. htm. Accessed March 18, 2004
29. Raper SE, Yudkoff M, Chirmule N, et al. A pilot study of in vivo liver-directed gene transfer with an adenoviral vector in partial ornithine transcarbamylase deficiency. Hum Gene Ther 2002;13:163-175
30. Schnell MA, Zhang Y, Tazelaar J, et al. Activation of innate immunity of nonhuman primates following intraportal administration of adenoviral vectors. Mol Ther 2001;3:708-722
31. Herzog RW, Mount JD, Arruda VR, High KA, Lothrop CD Jr. Muscle-directed gene transfer and transient immune suppression result in sustained partial correction of canine hemophilia B caused by a null mutation. Mol Ther 2001;4: 192-199
32. Pruchnic R, Cao B, Peterson ZQ, et al. The use of adeno-associated virus to circumvent the maturation-dependent viral transduction of muscle fibers. Hum Gene Ther 2000;11:521-536
33. Johnson MA, Polgar J, Weightman D. Data on the distribution of fibre types in thirty-six human muscles. An autopsy study. J Neurol Sci 1973;18:111-129
34. Mingozzi F, Liu Y-L, Dobrzynski E, et al. Induction of immune tolerance to coagulation factor IX antigen by in vivo hepatic gene transfer. J Clin Invest 2003;111:1347-1356
35. Franchini M, Rossetti G, Tagliaferri A, et al. The natural history of chronic hepatitis C in a cohort of HIV-negative Italian patients with hereditary bleeding disorders. Blood 2001;98:1836-1841
36. Meijer K, Haagsma EB, Kok T, et al. Natural history of hepatitis C in HIV-negative patients with congenital coagulation disorders. J Hepatol 1999;31:400-406
37. Bedossa P, Poynard T. French METAVIR Cooperative Study Group. An algorithm for the grading of activity in chronic hepatitis C. Hepatology 1996;24:289-293
38. French METAVIR Cooperative Study Group. Interobserver and intraobserver variation in liver biopsy interpretation in patients with chronic hepatitis C. Hepatology 1994;20:15-20
39. Nathwani AC, Davidoff AM, Hanawa H, et al. Sustained high level expression of human factor IX (hFIX) after liver-targeted delivery of recombinant adeno-associated virus encoding the hFIX gene in rhesus macaques. Blood 2002; 100:1662-1669
40. Zhang Y, Chirmule N, Gao G-P, et al. Acute cytokine response to systemic adenoviral vectors in mice is mediated by dendritic cells and macrophages. Mol Ther 2001;3:697-707
41. Miao CH, Snyder RO, Schowalter DB, et al. The kinetics of rAAV integration in the liver. Nat Genet 1998;19:13-15
42. Editorial. Gene therapy and the germline. Nat Med 1999; 5:245
43. Farber D. Gene therapy: safer and virus-free? Science 2001;294:1638-1642
44. National Institutes of Health Recombinant DNA Advisory Committee Minutes, June 18-19 1998. Bethesda, MD: NIH. Available at: http://www4.od.nih.gov/oba/ rac/minutes/ 6-98min.htm. Accessed March 18, 2004
45. FDA Biological Response Modifiers Advisory Committee. Issues Pertaining to Inadvertent Germline Transmission of Gene Transfer Vectors. Gaithersburg, MD: Food and Drug Administration, May 9-10, 2002. Available at: http:// www.fda.gov/ohrms/dockets/ac/02/briefing/3855B2_01.doc. Accessed March 18, 2004
46. Frankel M, Chapman A. Human inheritable genetic modifications: assessing scientific, ethical, religious, and policy issues. Available at http://archives.aaas.org/publications. php?pubid=687. March 18, 2004
47. King NM. Inadvertent germline effects in clinical research. Hastings Cent Rep 2003;33:23-30
48. Ye X, Gao GP, Pabin C, Raper SE, Wilson JM. Evaluating the potential of germ line transmission after intravenous administration of recombinant adenovirus in the C3H mouse. Hum Gene Ther 1998;9:2135-2142
49. Roehl HH, Leibbrandt ME, Greengard JS, et al. Analysis of testes and semen from rabbits treated by intravenous injection with a retroviral vector encoding the human factor VIII gene: no evidence of germ line transduction. Hum Gene Ther 2000; 11:2529-2540
50. Arruda VR, Fields PA, Milner R, et al. Lack of germline transmission of vector sequences following systemic administration of recombinant AAV-2 vector in males. Mol Ther 2001;4:586-592
51. Couto LB, Parker A, Gordon JW. Direct exposure of mouse sperm to high concentrations of an adeno-associated virus gene therapy vector fails to lead to germ cell transduction. Mol Ther 2003;7:S161(abst)
52. Department of Health and Human Services National Institutes of Health Recombinant DNA Advisory Committee. Minutes of Meeting, March 7-8; 2002. Bethesda, MD: NIH. Available at: http://www4.od.nih.gov/oba/RAC/ meeting.html. Accessed March 18, 2004
53. Department of Health and Human Services, National Institutes of Health Recombinant DNA Advisory Committee. Minutes of Meeting, December 6; 2001. Bethesda, MD: NIH. Available at: http://www4.od.nih.gov/oba/RAC/ meeting.html. Accessed March 18, 2004
54. Balagué C, Kalla M, Zhang WW. Adeno-associated virus Rep78 protein and terminal repeats enhance integration of DNA sequences into the cellular genome. J Virol 1997;71: 3299-3306
55. Young SMJ, McCarty DM, Degtyareva N, Samulaki RJ. Roles of adeno-associated virus Rep protein and human chromosome 19 in site-specific recombination. J Virol 2000; 74:3953-3966
56. Nakai H, Yant SR, Storm TA, et al. Extrachromosomal recombinant adeno-associated virus vector genomes are primarily responsible for stable liver transduction in vivo. J Virol 2001;75:6969-6975
57. Miller DG, Rutledge EA, Russell DW. Chromosomal effects of adeno-associated virus vector integration. Nat Genet 2002; 30:147-148
58. Nakai H, Montini E, Fuess S, et al. AAV serotype 2 vectors preferentially integrate into active genes in mice. Nat Genet 2003;34:297-302