Prospects for gene therapy of inherited retinal disease

Eye

Volumn 23, Issue 10, 2009, Pages 1898-1903

  Bainbridge, J W B ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Gene; Gene therapy; Retina; RPE65; Vector

Indexed keywords

CILIARY NEUROTROPHIC FACTOR; FIBROBLAST GROWTH FACTOR; GLIAL CELL LINE DERIVED NEUROTROPHIC FACTOR; GUANOSINE TRIPHOSPHATASE; MER RECEPTOR TYROSINE KINASE; MESSENGER RNA; MYOSIN VIIA; PARVOVIRUS VECTOR; PERIPHERIN; PROTEIN TYROSINE KINASE; RHODOPSIN; SHORT HAIRPIN RNA; UNCLASSIFIED DRUG;

CELL SURVIVAL; CLINICAL TRIAL; COLOR BLINDNESS; CONFERENCE PAPER; GENE; GENE MUTATION; GENE REPLACEMENT THERAPY; GENE SILENCING; GENE TARGETING; GENE TRANSFER; GENETIC DISORDER; HUMAN; OA1 GENE; PHOTORECEPTOR CELL; PIGMENT EPITHELIUM; RETINA DEGENERATION; RETINA DEVELOPMENT; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; RETINOSCHISIS; RNA INTERFERENCE; RPE65 GENE; SAFETY; STABLE EXPRESSION; STARGARDT DISEASE; TARGET CELL; VISUAL ACUITY;

ANIMALS; CARRIER PROTEINS; DISEASE MODELS, ANIMAL; EYE PROTEINS; GENE THERAPY; GENE TRANSFER TECHNIQUES; GENETIC VECTORS; HUMANS; MUTATION; RETINAL DISEASES;

EID: 70350168626     PISSN: 0950222X     EISSN: 14765454     Source Type: Journal    
DOI: 10.1038/eye.2008.412     Document Type: Conference Paper

References (44)

1. Bessant DA, Ali RR, Bhattacharya SS. Molecular genetics and prospects for therapy of the inherited retinal dystrophies. Curr Opin Genet Dev 2001; 11(3): 307-316.
2. Andrieu-Soler C, Bejjani RA, de Bizemont T, Normand N, BenEzra D, Behar-Cohen F. Ocular gene therapy: A review of nonviral strategies. Mol Vis 2006; 12: 1334-1347.
3. Bejjani RA, Andrieu C, Bloquel C, Berdugo M, BenEzra D, Behar-Cohen F. Electrically assisted ocular gene therapy. Surv Ophthalmol 2007; 52(2): 196-208.
4. Bennett J, Wilson J, Sun D, Forbes B, Maguire A. Adenovirus vector-mediated in vivo gene transfer into adult murine retina. Invest Ophthalmol Vis Sci 1994; 35(5): 2535-2542.
5. Ali RR, Reichel MB, Byrnes AP, Stephens CJ, Thrasher AJ, Baker D et al. Co-injection of adenovirus expressing CTLA4-Ig prolongs adenovirally mediated lacZ reporter gene expression in the mouse retina. Gene Ther 1998; 5(11): 1561-1565.
6. Reichel MB, Ali RR, Thrasher AJ, Hunt DM, Bhattacharya SS, Baker D. Immune responses limit adenovirally mediated gene expression in the adult mouse eye. Gene Ther 1998; 5(8): 1038-1046.
7. Kumar-Singh R. Barriers for retinal gene therapy: separating fact from fiction. Vision Res 2008; 48(16): 1671-1680.
8. Ali RR, Reichel MB, Thrasher AJ, Levinsky RJ, Kinnon C, Kanuga N et al. Gene transfer into the mouse retina mediated by an adeno-associated viral vector. Hum Mol Genet 1996; 5(5): 591-594.
9. Flannery JG, Zolotukhin S, Vaquero MI, LaVail MM, Muzyczka N, HauswirthWW. Efficient photoreceptor-targeted gene expression in vivo by recombinant adeno-associated virus. Proc Natl Acad Sci USA 1997; 94(13): 6916-6921.
10. Dreyer EB, Vorwerk CK, Zurakowski D, Simon PD, Bennett J. Infection with adeno-associated virus may protect against excitotoxicity. Neuroreport 1999; 10(14): 2887-2890.
11. Weber M, Rabinowitz J, Provost N, Conrath H, Folliot S, Briot D et al. Recombinant adeno-associated virus serotype 4 mediates unique and exclusive long-term transduction of retinal pigmented epithelium in rat, dog, and nonhuman primate after subretinal delivery. Mol Ther 2003; 7(6): 774-781.
12. Surace EM, Auricchio A. Versatility of AAV vectors for retinal gene transfer. Vision Res 2008; 48(3): 353-359.
13. Lebherz C, Maguire A, Tang W, Bennett J, Wilson JM. Novel AAV serotypes for improved ocular gene transfer. J Gene Med 2008; 10(4): 375-382.
14. Buch PK, Bainbridge JW, Ali RR. AAV-mediated gene therapy for retinal disorders: from mouse to man. Gene Ther 2008; 15(11): 849-857.
15. Bainbridge JW, Mistry A, Schlichtenbrede FC, Smith A, Broderick C, De Alwis M et al. Stable rAAV-mediated transduction of rod and cone photoreceptors in the canine retina. Gene Ther 2003; 10(16): 1336-1344.
16. Acland GM, Aguirre GD, Bennett J, Aleman TS, Cideciyan AV, Bennicelli J et al. Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness. Mol Ther 2005; 12(6): 1072-1082.
17. Min SH, Molday LL, Seeliger MW, Dinculescu A, Timmers AM, Janssen A et al. Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis. Mol Ther 2005; 12(4): 644-651.
18. Allocca M, Doria M, Petrillo M, Colella P, Garcia-Hoyos M, Gibbs D et al. Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice. J Clin Invest 2008; 118(5): 1955-1964.
19. Bainbridge JW, Stephens C, Parsley K, Demaison C, Halfyard A, Thrasher AJ et al. In vivo gene transfer to the mouse eye using an HIV-based lentiviral vector; efficient long-term transduction of corneal endothelium and retinal pigment epithelium. Gene Ther 2001; 8(21): 1665-1668.
20. Lotery AJ, Derksen TA, Russell SR, Mullins RF, Sauter S, Affatigato LM et al. Gene transfer to the nonhuman primate retina with recombinant feline immunodeficiency virus vectors. Hum Gene Ther 2002; 13(6): 689-696. (Pubitemid 34280483)
21. Balaggan KS, Binley K, Esapa M, Iqball S, Askham Z, Kan O et al. Stable and efficient intraocular gene transfer using pseudotyped EIAV lentiviral vectors. J Gene Med 2006; 8(3): 275-285.
22. Kong J, Kim SR, Binley K, Pata I, Doi K, Mannik J et al. Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy. Gene Ther 2008; 15(19): 1311-1320.
23. Kostic C, Chiodini F, Salmon P, Wiznerowicz M, Deglon N, Hornfeld D et al. Activity analysis of housekeeping promoters using self-inactivating lentiviral vector delivery into the mouse retina. Gene Ther 2003; 10(9): 818-821.
24. Gruter O, Kostic C, Crippa SV, Perez MT, Zografos L, Schorderet DF et al. Lentiviral vector-mediated gene transfer in adult mouse photoreceptors is impaired by the presence of a physical barrier. Gene Ther 2005; 12(11): 942-947.
25. Ali RR, Sarra GM, Stephens C, Alwis MD, Bainbridge JW, Munro PM et al. Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy. Nat Genet 2000; 25(3): 306-310.
26. Sarra GM, Stephens C, de Alwis M, Bainbridge JW, Smith AJ, Thrasher AJ et al. Gene replacement therapy in the retinal degeneration slow (rds) mouse: The effect on retinal degeneration following partial transduction of the retina. Hum Mol Genet 2001; 10(21): 2353-2361.
27. Pawlyk BS, Smith AJ, Buch PK, Adamian M, Hong DH, Sandberg MA et al. Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP. Invest Ophthalmol Vis Sci 2005; 46(9): 3039-3045.
28. Zeng Y, Takada Y, Kjellstrom S, Hiriyanna K, Tanikawa A, Wawrousek E et al. RS-1 gene delivery to an adult Rs1 h knockout mouse model restores ERG b-wave with reversal of the electronegative waveform of X-linked retinoschisis. Invest Ophthalmol Vis Sci 2004; 45(9): 3279-3285.
29. Kjellstrom S, Bush RA, Zeng Y, Takada Y, Sieving PA. Retinoschisin gene therapy and natural history in the Rs1h-KO mouse: long-term rescue from retinal degeneration. Invest Ophthalmol Vis Sci 2007; 48(8): 3837-3845.
30. Alexander JJ, Hauswirth WW. Prospects for retinal conetargeted gene therapy. Drug News Perspect 2008; 21(5): 267-271.
31. Smith AJ, Schlichtenbrede FC, Tschernutter M, Bainbridge JW, Thrasher AJ, Ali RR. AAV-mediated gene transfer slows photoreceptor loss in the RCS rat model of retinitis pigmentosa. Mol Ther 2003; 8(2): 188-195.
32. Tschernutter M, Schlichtenbrede FC, Howe S, Balaggan KS, Munro PM, Bainbridge JW et al. Long-term preservation of retinal function in the RCS rat model of retinitis pigmentosa following lentivirus-mediated gene therapy. Gene Ther 2005; 12(8): 694-701.
33. Surace EM, Domenici L, Cortese K, Cotugno G, Di Vicino U, Venturi C et al. Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer. Mol Ther 2005; 12(4): 652-658.
34. Lorenz B, Wabbels B, Wegscheider E, Hamel CP, Drexler W, Preising MN. Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65. Ophthalmology 2004; 111(8): 1585-1594.
35. Narfstrom K, Katz ML, Bragadottir R, Seeliger M, Boulanger A, Redmond TM et al. Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog. Invest Ophthalmol Vis Sci 2003; 44(4): 1663-1672.
36. Le Meur G, Stieger K, Smith AJ, Weber M, Deschamps JY, Nivard D et al. Restoration of vision in RPE65-deficient Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium. Gene Ther 2007; 14(4): 292-303.
37. Bainbridge JW, Smith AJ, Barker SS, Robbie S, Henderson R, Balaggan K et al. Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med 2008; 358(21): 2231-2239.
38. Maguire AM, Simonelli F, Pierce EA, Pugh Jr EN, Mingozzi F, Bennicelli J et al. Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med 2008; 358(21): 2240-2248.
39. Cideciyan AV, Aleman TS, Boye SL, Schwartz SB, Kaushal S, Roman AJ et al. Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proc Natl Acad Sci USA 2008; 105(39): 15112-15117.
40. Hauswirth W, Aleman TS, Kaushal S, Cideciyan AV, Schwartz SB, Wang L et al. Phase I trial of Leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results. Hum Gene Ther 2008 [e-pub ahead of print].
41. Gorbatyuk MS, Pang JJ, Thomas Jr J, Hauswirth WW, Lewin AS. Knockdown of wild-type mouse rhodopsin using an AAV vectored ribozyme as part of an RNA replacement approach. Mol Vis 2005; 11: 648-656.
42. O'Reilly M, Palfi A, Chadderton N, Millington-Ward S, Ader M, Cronin T et al. RNA interference-mediated suppression and replacement of human rhodopsin in vivo. Am J Hum Genet 2007; 81(1): 127-135.
43. Schlichtenbrede FC, MacNeil A, Bainbridge JW, Tschernutter M, Thrasher AJ, Smith AJ et al. Intraocular gene delivery of ciliary neurotrophic factor results in significant loss of retinal function in normal mice and in the Prph2Rd2/Rd2 model of retinal degeneration. Gene Ther 2003; 10(6): 523-527.
44. Buch PK, MacLaren RE, Duran Y, Balaggan KS, MacNeil A, Schlichtenbrede FC et al. In contrast to AAV-mediated Cntf expression, AAV-mediated Gdnf expression enhances gene replacement therapy in rodent models of retinal degeneration. Mol Ther 2006; 14(5): 700-709.