Safety and efficacy of gene transfer for Leber's congenital amaurosis

New England Journal of Medicine

Volumn 358, Issue 21, 2008, Pages 2240-2248

  Maguire, Albert M ^a,b,c   Simonelli, Francesca ^d,e   Pierce, Eric A ^a,c   Pugh Jr , Edward N ^a   Mingozzi, Federico ^b   Bennicelli, Jeannette ^a,c   Banfi, Sandro ^e   Marshall, Kathleen A ^b   Testa, Francesco ^d   Surace, Enrico M ^e   Rossi, Settimio ^d   Lyubarsky, Arkady ^a,c   Arruda, Valder R ^b,c   Konkle, Barbara ^c   Stone, Edwin ^g,l   Sun, Junwei ^b   Jacobs, Jonathan ^h   Dell'Osso, Lou ^h   Hertle, Richard ⁱ   Ma, Jian Xing ^j   Redmond, T Michael ^k   Zhu, Xiaosong ^b   Hauck, Bernd ^b   Zelenaia, Olga ^b   Shindler, Kenneth S ^a,c   Maguire, Maureen G ^a,c   Wright, J Fraser ^b,c   Volpe, Nicholas J ^a,c   McDonnell, Jennifer Wellman ^b   Auricchio, Alberto ^e,f   High, Katherine A ^b,c,l   Bennett, Jean ^a,b,m   more..

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d SECOND UNIVERSITY OF NAPLES   (Italy)

^e TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^f UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^g UNIVERSITY OF IOWA   (United States)

^h LOUIS STOKES CLEVELAND VA MEDICAL CENTER   (United States)

ⁱ CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^j UNIVERSITY OF OKLAHOMA   (United States)

^k NATIONAL EYE INSTITUTE   (United States)

^l HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^m FM Kirby Center for Molecular Ophthalmology   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; PARVOVIRUS VECTOR; RECOMBINANT PROTEIN; RETINAL PIGMENT EPITHELIUM SPECIFIC 65 KDA PROTEIN;

ADULT; ARTICLE; CASE REPORT; CLINICAL TRIAL; DRUG EFFICACY; DRUG SAFETY; FEMALE; FOLLOW UP; GENE TRANSFER; HUMAN; LEBER CONGENITAL AMAUROSIS; MALE; PRIORITY JOURNAL; RETINA; RETINA MACULA HOLE; VIRUS RECOMBINANT; VISION; VISUAL ACUITY;

EID: 44249085878     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa0802315     Document Type: Article

References (25)

1. TS Aleman SG Jacobson JD Chico Impairment of the transient pupillary light reflex in Rpe65(−/−) mice and humans with leber congenital amaurosis. Invest Ophthalmol Vis Sci 45 2004 1259 1271
2. B Lorenz P Gyurus M Preising Early-onset severe rod-cone dystrophy in young children with RPE65 mutations. Invest Ophthalmol Vis Sci 41 2000 2735 2742
3. F Simonelli C Ziviello F Testa Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. Invest Ophthalmol Vis Sci 48 2007 4284 4290
4. I Perrault JM Rozet S Gerber Leber congenital amaurosis. Mol Genet Metab 68 1999 200 208
5. G Moiseyev Y Chen Y Takahashi B Wu J Ma RPE65 is the isomerohydrolase in the retinoid visual cycle. Proc Natl Acad Sci U S A 102 2005 12413 12418
6. M Jin S Li WN Moghrabi H Sun GH Travis Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium. Cell 122 2005 449 459
7. TM Redmond S Yu E Lee Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. Nat Genet 20 1998 344 351
8. TM Redmond E Poliakov S Yu J Tsai Z Lu S Gentleman Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle. Proc Natl Acad Sci U S A 102 2005 13658 13663
9. SM Gu DA Thompson CR Srikumari Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat Genet 17 1997 194 197
10. GD Aguirre V Baldwin S Pearce-Kelling K Narfstrom K Ray GM Acland Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect. Mol Vis 4 1998 23
11. K Narfstrom A Wrigstad S Nilsson The Briard dog: a new animal model of congenital stationary night blindness. Br J Ophthalmol 73 1989 750 756
12. SG Jacobson TS Aleman AV Cideciyan Identifying photoreceptors in blind eyes caused by RPE65 mutations: prerequisite for human gene therapy success. Proc Natl Acad Sci U S A 102 2005 6177 6182
13. J Bennicelli JF Wright A Komaromy Reversal of blindness in animal models of Leber congenital amaurosis using optimized AAV2-mediated gene transfer. Mol Ther 16 2008 458 465
14. GM Acland GD Aguirre J Bennett 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 12 2005 1072 1082
15. GM Acland GD Aguirre J Ray Gene therapy restores vision in a canine model of childhood blindness. Nat Genet 28 2001 92 95
16. Joseph D, Thomas M. Surgical removal of subretinal choroidal neovascular membranes. In: Wilkinson C, ed. Retina. 3rd ed. St. Louis: Mosby, 2001:2562-72.
17. RW Beck MG Maguire NM Bressler AR Glassman AS Lindblad FL Ferris Visual acuity as an outcome measure in clinical trials of retinal diseases. Ophthalmology 114 2007 1804 1809
18. EL Berson MA Sandberg B Rosner DG Birch AH Hanson Natural course of retinitis pigmentosa over a three-year interval. Am J Ophthalmol 99 1985 240 251
19. W Seiple C Clemens VC Greenstein RE Carr K Holopigian Test-retest reliability of the multifocal electroretinogram and Humphrey visual fields in patients with retinitis pigmentosa. Doc Ophthalmol 109 2004 255 272
20. JB Jacobs LF Dell'Osso RW Hertle GM Acland J Bennett Eye movement recordings as an effectiveness indicator of gene therapy in RPE65-deficient canines: implications for the ocular motor system. Invest Ophthalmol Vis Sci 47 2006 2865 2875
21. EE Birch DG Birch Pupillometric measures of retinal sensitivity in infants and adults with retinitis pigmentosa. Vision Res 27 1987 499 505
22. O Bergamin RH Kardon Latency of the pupil light reflex: sample rate, stimulus intensity, and variation in normal subjects. Invest Ophthalmol Vis Sci 44 2003 1546 1554
23. JS Fosnaugh EB Bunker WB Pickworth Daily variation and effects of ambient light and circadian factors on the human light reflex. Methods Find Exp Clin Pharmacol 14 1992 545 553
24. JD Gass Idiopathic senile macular hole: its early stages and pathogenesis. Arch Ophthalmol 106 1988 629 639
25. Ho AC. Macular hole. In: Guyer D, Yannuzzi L, Chang S, Shields J, Green W, eds. Retina-vitreous-macula. Philadelphia: W.B. Saunders, 1999:217-29.