Gene therapy for ocular problems in mucopolysaccharidosis: An experimental and promising approach with benefits in animal models - a review

Clinical and Experimental Ophthalmology

Volumn 38, Issue SUPPL. 1, 2010, Pages 43-51

  Ponder, Katherine P ^a   Auricchio, Alberto ^b,c  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Telethon Institute of Genetics and Medicine   (United States)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

Eye disease; Gene therapy; Genetic vector; Mucopolysaccharidosis; Therapeutic

Indexed keywords

ALPHA 1 ANTITRYPSIN; BETA ACTIN; MANNOSE 6 PHOSPHATE; VIRUS VECTOR;

ANIMAL MODEL; DOG; ELECTROPHYSIOLOGY; EYE; EYE DISEASE; GENE THERAPY; GENE VECTOR; GENETIC TRANSDUCTION; HISTOPATHOLOGY; HUMAN; LEBER CONGENITAL AMAUROSIS; LIVER; LIVER CELL; MUCOPOLYSACCHARIDOSIS; NONHUMAN; PROTEIN EXPRESSION; RETINA DISEASE; REVIEW; THERAPY EFFECT; TREATMENT RESPONSE; VISION;

EID: 77955376549     PISSN: 14426404     EISSN: 14429071     Source Type: Journal    
DOI: 10.1111/j.1442-9071.2010.02367.x     Document Type: Review

References (43)

1. Ponder KP, Haskins ME. Gene therapy for mucopolysaccharidosis. Expert Opin Biol Ther 2007, 7:1333-45.
2. Ashworth JL, Kruse FE, Bachmann B. Ocular manifestations in the mucopolysaccharidoses. Clin Experiment Ophthalmol 2010, 38(S1):12-22.
3. Ferrari S, Ponzin D, Ashworth JL. Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis. Br J Ophthalmol 2010, doi:10.1136/bjo.2010.179937
4. Summers CG, Fahnehjelm KT, Pitz S. Systemic therapies for mucopolysaccharidosis: ocular changes following haematopoietic stem cell transplantation or enzyme replacement therapy. Clin Experiment Ophthalmol 2010, 38(S1):34-42.
5. Beck M. New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy. Hum Genet 2007, 121:1-22.
6. Colella P, Cotugno G, Auricchio A. Ocular gene therapy: current progress and future prospects. Trends Mol Med 2009, 15:23-31.
7. Willoughby CE, Ponzin D, Ferrari S, Lobo A, Landau K, Omidi Y. Anatomy and physiology of the human eye: effects of mucopolysaccharidosis disease on structure and function. Clin Experiment Ophthalmol 2010, 38(S1):2-11.
8. Metcalf JA, Ma X, Linders B. A self-inactivating y-retroviral vector reduces manifestations of mucopolysaccharidosis I in mice. Mol Ther 2010, 18:334-42.
9. Bushman FD. Retroviral integration and human gene therapy. J Clin Invest 2007, 117:2083-6.
10. Xu L, O'Malley T, Sands MS. In vivo transduction of hematopoietic stem cells after neonatal intravenous injection of an amphotropic retroviral vector in mice. Mol Ther 2004, 10:37-44.
11. Wang B, O'Malley TM, Xu L. Expression in blood cells may contribute to biochemical and pathological improvements after neonatal intravenous gene therapy for mucopolysaccharidosis VII in dogs. Mol Genet Metab 2006, 87:8-21.
12. Liu Y, Xu L, Hennig AK. Liver-directed neonatal gene therapy prevents cardiac, bone, ear, and eye disease in mucopolysaccharidosis I mice. Mol Ther 2005, 11:35-47.
13. Ma X, Liu Y, Tittiger M. Improvements in mucopolysaccharidosis I mice after adult retroviral vector-mediated gene therapy with immunomodulation. Mol Ther 2007, 15:889-902.
14. Daly TM, Vogler C, Levy B, Haskins ME, Sands MS. Neonatal gene transfer leads to widespread correction of pathology in a murine model of lysosomal storage disease. Proc Natl Acad Sci U S A 1999, 96:2296-300.
15. Daly TM, Ohlemiller KK, Roberts MS, Vogler CA, Sands MS. Prevention of systemic clinical disease in MPS VII mice following AAV-mediated neonatal gene transfer. Gene Ther 2001, 8:1291-8.
16. Donsante A, Levy B, Vogler C, Sands MS. Clinical response to persistent, low-level β-glucuronidase expression in the murine model of mucopolysaccharidosis type VII. J Inherit Metab Dis 2007, 30:227-38.
17. Xu L, Mango RL, Sands MS, Haskins ME, Ellinwood NM, Ponder KP. Evaluation of pathological manifestations of disease in mucopolysaccharidosis VII mice after neonatal hepatic gene therapy. Mol Ther 2002, 6:745-58.
18. Kamata Y, Tanabe A, Kanaji A. Long-term normalization in the central nervous system, ocular manifestations, and skeletal deformities by a single systemic adenovirus injection into neonatal mice with mucopolysaccharidosis VII. Gene Ther 2003, 10:406-14.
19. Ponder KP. Immunology of neonatal gene transfer. Curr Gene Ther 2007, 7:403-10.
20. Ponder KP, Melniczek JR, Xu L. Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs. Proc Natl Acad Sci U S A 2002, 99:13102-7.
21. Traas AM, Wang P, Ma X. Correction of clinical manifestations of canine mucopolysaccharidosis I with neonatal retroviral vector gene therapy. Mol Ther 2007, 15:1423-31.
22. Allocca M, Tessitore A, Cotugno G, Auricchio A. AAV-mediated gene transfer for retinal diseases. Expert Opin Biol Ther 2006, 6:1279-94.
23. Lebherz C, Maguire A, Tang W, Bennett J, Wilson JM. Novel AAV serotypes for improved ocular gene transfer. J Gene Med 2008, 10:375-82.
24. Auricchio A, Kobinger G, Anand V. Exchange of surface proteins impacts on viral vector cellular specificity and transduction characteristics: the retina as a model. Hum Mol Genet 2001, 10:3075-81.
25. Allocca M, Mussolino C, Garcia-Hoyos M. Novel adeno-associated virus serotypes efficiently transduce murine photoreceptors. J Virol 2007, 81:11372-80.
26. Surace EM, Auricchio A, Reich SJ. Delivery of adeno-associated virus vectors to the fetal retina: impact of viral capsid proteins on retinal neuronal progenitor transduction. J Virol 2003, 77:7957-63.
27. Allocca M, Doria M, Petrillo M. Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice. J Clin Invest 2008, 118:1955-64.
28. Kamata Y, Okuyama T, Kosuga M. Adenovirus-mediated gene therapy for corneal clouding in mice with mucopolysaccharidosis type VII. Mol Ther 2001, 4:307-12.
29. Li T, Davidson BL. Phenotype correction in retinal pigment epithelium in murine mucopolysaccharidosis VII by adenovirus-mediated gene transfer. Proc Natl Acad Sci U S A 1995, 92:7700-4.
30. Derksen TA, Sauter SL, Davidson BL. Feline immunodeficiency virus vectors. Gene transfer to mouse retina following intravitreal injection. J Gene Med 2002, 4:463-9.
31. Hennig AK, Ogilvie JM, Ohlemiller KK, Timmers AM, Hauswirth WW, Sands MS. AAV-mediated intravitreal gene therapy reduces lysosomal storage in the retinal pigmented epithelium and improves retinal function in adult MPS VII mice. Mol Ther 2004, 10:106-16.
32. Ho TT, Maguire AM, Aguirre GD. Phenotypic rescue after adeno-associated virus-mediated delivery of 4-sulfatase to the retinal pigment epithelium of feline mucopolysaccharidosis VI. J Gene Med 2002, 4:613-21.
33. Cremers FPM, van den Hurk JAJM, den Hollander AI. Molecular genetics of Leber congenital amaurosis. Hum Mol Genet 2002, 11:1169-76.
34. Simonelli F, Ziviello C, Testa F. Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. Invest Ophthalmol Vis Sci 2007, 48:4284-90.
35. Pang JJ, Chang B, Kumar A. Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosis. Mol Ther 2006, 13:565-72.
36. Narfström K, Katz ML, Ford M, Redmond TM, Rakoczy E, Bragadóttir R. In vivo gene therapy in young and adult RPE65-/- dogs produces long-term visual improvement. J Hered 2003, 94:31-7.
37. Bainbridge JWB, Smith AJ, Barker SS. Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med 2008, 358:2231-9.
38. Hauswirth WW, Aleman TS, Kaushal S. Treatment of Leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. Hum Gene Ther 2008, 19:979-90.
39. Maguire AM, Simonelli F, Pierce EA. Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med 2008, 358:2240-8.
40. Cideciyan AV, Aleman TS, Boye SL. Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proc Natl Acad Sci U S A 2008, 105:15112-7.
41. Cideciyan AV, Hauswirth WW, Aleman TS. Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year. Hum Gene Ther 2009, 20:999-1004.
42. Simonelli F, Maguire AM, Testa F. Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration. Mol Ther 2010, 18:643-50.
43. Maguire AM, High KA, Auricchio A. Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet 2009, 374:1597-605.