Gene therapy for Leber congenital amaurosis

Novartis Foundation Symposium

Volumn 255, Issue , 2003, Pages 195-202

  Bennett, Jean ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 33751581020     PISSN: 15282511     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Article

References (39)

1. Acland GM, Aguirre G, Maguire AM et al 2001 Gene therapy restores vision in a canine model of childhood blindness. Nat Genet 28:92-95
2. Acland GM, Aguirre G, Aleman T et al 2002 Continuing evaluation of gene therapy in the rpe65 mutant dog. Invest Ophthalmol Vis Sci (abstr 4593)
3. Aguirre G, Baldwin V, Pearce-Kelling S, Narfstrom K, Ray K, Acland GM 1998 Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect. Mol Vis 4:23
4. Auricchio A, Kobinger G, Anand V et al 2001 Exchange of surface proteins impacts on viral vector cellular specificity and transduction characteristics: the retina as a model. Hum Mol Genet 10:3075-3081
5. Bavik C, Busch C, Eriksson U 1992 Characterization of a plasma retinol-binding protein membrane-receptor expressed in the retinal pigment epithelium. J Biol Chem 267:23035-23042
6. Bennett J 2000 Gene therapy for retinitis pigmentosa. Curr Opin Med Ther 2:420-425
7. Bennett J 2003 Gene therapy for childhood onset blindness. In: Templeton NS (ed) Gene therapy: therapeutic mechanisms and strategies, 2nd edn, Marcel Dekker Inc, New York, in press
8. Bennett J, Maguire AM 2000 Gene therapy for ocular disease. Mol Ther 1:501-505
9. Bennett J, Tanabe T, Sun D et al 1996 Photoreceptor cell rescue in retinal degeneration (rd) mice by in vivo gene therapy. Nat Med 2:649-654
10. Bennett J, Zeng Y, Bajwa R, Klatt L, Li Y, Maguire AM 1998 Adenovirus-mediated delivery of rhodopsin-promoted bcl-2 results in a delay in photoreceptor cell death in the rd/rd mouse. Gene Ther 5:1156-1164
11. Bennett J, Maguire AM, Cideciyan AV et al 1999 Stable transgene expression in rod photoreceptors after recombinant adeno-associated virus-mediated gene transfer to monkey retina. Proc Natl Acad Sci USA 96:9920-9925
12. Bennett J, Anand V, Acland GM, Maguire AM 2000 Cross-species comparison of in vivo reporter gene expression after recombinant adeno-associated virus-mediated retinal transduction. Methods Enzymol 316:777-789
13. Cremers F, van den Hurk J, den Hollander A 2002 Molecular genetics of Leber congenital amaurosis. Hum Mol Genet 11:1169-1176
14. Dejneka NS, Bennett J 2001 Gene therapy and retinitis pigmentosa: advances and future challenges. Bioessays 23:662-668
15. Dudus L, Anand V, Acland GM et al 1999 Persistent transgene product in retina, optic nerve and brain after intraocular injection of rAAV. Vision Res 39:2545-2554
16. Gu S-M, Thompson DA, Srikumari CRS et al 1997 Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat Genet 17:194-197
17. Hauswirth W, Beaufrer L 2000 Ocular gene therapy: quo vadis? Invest Ophthalmol Vis Sci 41:2821-2826
18. Ho TT, Maguire AM, Aguirre GD et al 2002 Phenotypic rescue after adeno-associated virus-mediated delivery of 4-sulfatase to the retinal pigment epithelium of feline mucopolysaccharidosis VI. J Gene Med 4:613-621
19. Jacobs JB, Dell'Osso LF, Hertle RW, Bennett J, Acland G 2003 Gene therapy to abolish congenital nystagmus in RPE65-deficient canines. Invest Ophthalmol Vis Sci (abstr 4249)
20. Kumar-Singh R, Farber DB 1998 Encapsidated adenovirus mini-chromosome-mediated delivery of genes to the retina: application to the rescue of photoreceptor degeneration. Hum Mol Genet 7:1893-1900
21. LaVail MM, Yasumura D, Matthes MT et al 2000 Ribozyme rescue of photoreceptor cells in P23H transgenic rats: long-term survival and late-stage therapy. Proc Natl Acad Sci USA 97:11488-11493
22. Lewin AS, Drenser KA, Hauswirth WW et al 1998 Ribozyme rescue of photoreceptor cells in a transgenic rat model of autosomal dominant retinitis pigmentosa. Nat Med 4:967-971
23. Liang F-Q, Aleman TS, Dejneka NS et al 2001a Long-term protection of retinal structure but not function using rAAV.CNTF in animal models of retinitis pigmentosa. Mol Ther 4:461-472
24. Liang F-Q, Dejneka NS, Cohen DR et al 2001b AAV-mediated delivery of ciliary neurotrophic factor prolongs photoreceptor survival in the rhodopsin knockout mouse. Mol Ther 3:241-248
25. Lotery A, Namperumalsamy P, Jacobson S et al 2000 Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Arch Ophthalmol 118:538-543
26. Marlhens F, Bareil C, Griffoin J-M et al 1997 Mutations in RPE65 cause Leber's congenital amaurosis. Nat Genet 17:139-141
27. McGee Sanftner L, Abel H, Hauswirth WW, Flannery JG 2001 Glial cell line derived neurotrophic factor delays photoreceptor degeneration in a transgenic rat model of retinitis pigmentosa. Mol Ther 4:622-629
28. Morimura H, Fishman GA, Grover SA, Fulton AB, Berson EL, Dryja TP 1998 Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis. Proc Natl Acad Sci USA 95:3088-3093
29. Narfstrom K, Wrigstad A, Nilsson SE 1989 The Briard dog: a new animal model of congenital stationary night blindness. Brit J Ophthalmol. 73:750-756
30. Redmond TM, Hamel CP 2000 Genetic analysis of RPE65: from human disease to mouse model. Methods Enzymol 317:705-724
31. Redmond TM, Yu S, Lee E et al 1998 Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. Nat Genet 20:344-351
32. Reich SJ, Maguire A, Auricchio A et al 2003 Trans-splicing AAV vector system expands the packaging capacity of AAV gene therapy vectors for delivery of large transgenes to the retina. Hum Gene Ther 14:37-44
33. Sarra G-M, Stephens C, de Alwis M et al 2001 Gene replacement therapy in the retinal degeneration slow (rds) mouse: the effect on retinal degeneration following partial transduction of the retina. Hum Mol Genet 10:2353-2361
34. Stolberg SG 2002 Trials are halted on a gene therapy. New York Times
35. Surace E, Auricchio A, Reich S et al 2003 Delivery of adeno-associated viral vectors to the fetal retina: impact of viral capsid proteins on retinal neuronal progenitor transduction. J Virol 77:7957-7963
36. Thompson D, Gyurus P, Fleischer L et al 2000 Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. Invest Ophthalmol Vis Sci 41:4293-4299
37. Veske A, Nilsson SE, Narfstrom K, Gal A 1999 Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65. Genomics 57:57-61
38. Vollrath D, Feng W, Duncan J et al 2001 Correction of the retinal dystrophy phenotype of the RCS rat by viral gene transfer of Mertk. Proc Natl Acad Sci USA 98:12584-12589
39. Wrigstad A 1994 Hereditary dystrophy of the retina and the retinal pigment epithelium in a strain of briard dogs: a clinical, morphological and electrophysiological study. PhD Thesis, Linkoping University Medical Dissertations, Sweden