Intrathecal administration of AAV vectors for the treatment of lysosomal storage in the brains of MPS I mice

Gene Therapy

Volumn 13, Issue 11, 2006, Pages 917-925

  Watson, G ^a   Bastacky, J ^a   Belichenko, P ^b   Buddhikot, M ^a   Jungles, S ^c   Vellard, M ^c   Mobley, W C ^b   Kakkis, E ^c  

^a CHILDREN S HOSPITAL OAKLAND RESEARCH INSTITUTE   (United States)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c BIOMARIN PHARMACEUTICAL INC   (United States)

Author keywords

Adeno associated virus; Blood brain barrier; Iduronidase; Intrathecal; Lysosomal storage disease; Mucopolysaccharidosis type I

Indexed keywords

LARONIDASE; PARVOVIRUS VECTOR;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CELL COUNT; CELL TYPE; CEREBELLUM; CEREBROSPINAL FLUID; CONTROLLED STUDY; CORRELATION ANALYSIS; ENZYME ACTIVITY; GENE SEQUENCE; GLIA CELL; HISTOPATHOLOGY; HURLER SYNDROME; LYSOSOME STORAGE DISEASE; MOUSE; NERVE CELL; NONHUMAN; OLFACTORY BULB; PRIORITY JOURNAL; PURKINJE CELL; TISSUE DISTRIBUTION; VIRAL GENE DELIVERY SYSTEM; VIRAL GENE THERAPY;

ANIMALS; BRAIN; DEPENDOVIRUS; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; GENE EXPRESSION; GENE THERAPY; GENETIC VECTORS; IDURONIDASE; INJECTIONS, SPINAL; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MICROSCOPY, CONFOCAL; MUCOPOLYSACCHARIDOSIS I;

ADENO-ASSOCIATED VIRUS; ANIMALIA; PARVOVIRUS;

EID: 33646808142     PISSN: 09697128     EISSN: 14765462     Source Type: Journal    
DOI: 10.1038/sj.gt.3302735     Document Type: Article

References (44)

1. Neufeld EF, Muenzer J. The Mucopolysaccharidoses. McGraw-Hill: New York, 2001 pp 3421-3452.
2. Peters C, Shapiro EG, Anderson J, Henslee-Downey PJ, Klemperer MR, Cowan MJ et al. Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group. Blood 1998; 91: 2601-2608.
3. Peters C, Balthazor M, Shapiro EG, King RJ, Kollman C, Hegland JD et al. Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood 1996; 87: 4894-4902.
4. Staba SL, Escolar ML, Poe M, Kim Y, Martin PL, Szabolcs P et al. Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med 2004; 350: 1960-1969.
5. Kakkis ED, Muenzer J, Tiller GE, Waber L, Belmont J, Passage M et al. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 2001; 344: 182-188.
6. Wraith JE, Clarke LA, Beck M, Kolodny EH, Pastores GM, Muenzer J et al. Enzyme replacement therapy for mucopolysaccharidosis I: A randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr 2004; 144: 581-588.
7. Hartung SD, Frandsen JL, Pan D, Koniar BL, Graupman P, Gunther R et al. Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human alpha-L-iduronidase gene. Mol Ther 2004; 9: 866-875.
8. Desmaris N, Verot L, Puech JP, Caillaud C, Vanier MT, Heard JM. Prevention of neuropathology in the mouse model of Hurler syndrome. Ann Neurol 2004; 56: 68-76.
9. Di Domenico C, Villani GR, Di Napoli D, Reyero EG, Lombardo A, Naldini L et al. Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector. Hum Gene Ther 2005; 16: 81-90.
10. Kobayashi H, Carbonaro D, Pepper K, Petersen D, Ge S, Jackson H et al. Neonatal gene therapy of MPS I mice by intravenous injection of a lentiviral vector. Mol Ther 2005; 11: 776-789.
11. Grewal SS, Wynn R, Abdenur JE, Burton BK, Gharib M, Haase C et al. Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome. Genet Med 2005; 7: 143-146.
12. Zheng Y, Rozengurt N, Ryazantsev S, Kohn DB, Satake N, Neufeld EF. Treatment of the mouse model of mucopolysaccharidosis I with retrovirally transduced bone marrow. Mol Genet Metab 2003; 79: 233-244.
13. Neufeld EF. Lysosomal storage diseases. Annu Rev Biochem 1991; 60: 257-280.
14. Kakkis ED, McEntee MF, Schmidtchen A, Neufeld EF, Ward DA, Gompf RE et al. Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I. Biochem Mol Med 1996; 58: 156-167.
15. Shull RM, Kakkis ED, McEntee MF, Kania SA, Jonas AJ, Neufeld EF. Enzyme replacement in a canine model of Hurler syndrome. Proc Natl Acad Sci USA 1994; 91: 12937-12941.
16. Kakkis ED, Schuchman E, He X, Wan Q, Kania S, Wiemelt S et al. Enzyme replacement therapy in feline mucopolysaccharidosis I. Mol Genet Metab 2001; 72: 199-208.
17. Wraith EJ, Hopwood JJ, Fuller M, Meikle PJ, Brooks DA. Laronidase treatment of mucopolysaccharidosis I. BioDrugs 2005; 19: 1-7.
18. Kakkis E, Lester T, Yang R, Tanaka C, Anand V, Lemontt J et al. Successful induction of immune tolerance to enzyme replacement therapy in canine mucopolysaccharidosis I. Proc Natl Acad Sci USA 2004; 101: 829-834.
19. Kakkis E, McEntee M, Vogler C, Le S, Levy B, Belichenko P et al. Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I. Mol Genet Metab 2004; 83: 163-174.
20. Barranger JA. Marrow transplantation in genetic disease. N Engl J Med 1984; 311: 1629-1631.
21. Zheng Y, Ryazantsev S, Ohmi K, Zhao HZ, Rozengurt N, Kohn DB et al. Retrovirally transduced bone marrow has a therapeutic effect on brain in the mouse model of mucopolysaccharidosis IIIB. Mol Genet Metab 2004; 82: 286-295.
22. Sakurai K, Iizuka S, Shen JS, Meng XL, Mori T, Umezawa A et al. Brain transplantation of genetically modified bone marrow stromal cells corrects CNS pathology and cognitive function in MPS VII mice. Gene Therapy 2004; 11: 1475-1481.
23. Cheng SH, Smith AE. Gene therapy progress and prospects: Gene therapy of lysosomal storage disorders. Gene Therapy 2003; 10: 1275-1281.
24. Bosch A, Perret E, Desmaris N, Heard JM. Long-term and significant correction of brain lesions in adult mucopolysaccharidosis Type VII mice using recombinant AAV vectors. Mol Ther 2000; 1: 63-70.
25. Bosch A, Perret E, Desmaris N, Trono D, Heard JM. Reversal of pathology in the entire brain of mucopolysaccharidosis type VII mice after lentivirus-mediated gene transfer. Hum Gene Ther 2000; 11: 1139-1150.
26. Vite CH, McGowan JC, Niogi SN, Passini MA, Drobatz KJ, Haskins ME et al. Effective gene therapy for an inherited CNS disease in a large animal model. Ann Neurol 2005; 57: 355-364.
27. Elliger SS, Elliger CA, Aguilar CP, Raju NR, Watson GL. Elimination of lysosomal storage in brains of MPS VII mice treated by intrathecal administration of an adeno-associated virus vector. Gene Therapy 1999; 6: 1175-1178.
28. Elliger SS, Elliger CA, Lang C, Watson GL. Enhanced secretion and uptake of beta-glucuronidase improves adeno-associated viral-mediated gene therapy of mucopolysaccharidosis type VII mice. Mol Ther 2002; 5: 617-626.
29. Ponder KP, Melniczek JR, Xu L, Weil MA, O'Malley TM, O'Donnell PA et al. Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs. Proc Natl Acad Sci USA 2002; 99: 13102-13107.
30. 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 Therapy 2001; 8: 1291-1298.
31. Sferra TJ, Backstrom K, Wang C, Rennard R, Miller M, Hu Y. Widespread correction of lysosomal storage following intrahepatic injection of a recombinant adeno-associated virus in the adult MPS VII mouse. Mol Ther 2004; 10: 478-491.
32. Stewart PA, Hayakawa EM. Interendothelial junctional changes underlie the developmental 'tightening' of the blood-brain barrier. Brain Res 1987; 429: 271-281.
33. Peel AL, Zolotukhin S, Schrimsher GW, Muzyczka N, Reier PJ. Efficient transduction of green fluorescent protein in spinal cord neurons using adeno-associated virus vectors containing cell type-specific promoters. Gene Therapy 1997; 4: 16-24.
34. Davidson BL, Stein CS, Heth JA, Martins I, Kotin RM, Derksen TA et al. Recombinant adeno-associated virus type 2, 4, and 5 vectors: transduction of variant cell types and regions in the mammalian central nervous system. Proc Natl Acad Sci USA 2000; 97: 3428-3432.
35. Rabinowitz JE, Rolling F, Li C, Conrath H, Xiao W, Xiao X et al. Cross-packaging of a single adeno-associated virus (AAV) type 2 vector genome into multiple AAV serotypes enables transduction with broad specificity. J Virol 2002; 76: 791-801.
36. Thomas CE, Storm TA, Huang Z, Kay MA. Rapid uncoating of vector genomes is the key to efficient liver transduction with pseudotyped adeno-associated virus vectors. J Virol 2004; 78: 3110-3122.
37. Watson GL, Sayles JN, Chen C, Elliger SS, Elliger CA, Raju NR et al. Treatment of lysosomal storage disease in MPS VII mice using a recombinant adeno-associated virus. Gene Therapy 1998; 5: 1642-1649.
38. Xu R, Janson CG, Mastakov M, Lawlor P, Young D, Mouravlev A et al. Quantitative comparison of expression with adeno-associated virus (AAV2) brain-specific gene cassettes. Gene Therapy 2001; 8: 1323-1332.
39. Sands MS, Vogler C, Kyle JW, Grubb JH, Levy B, Galvin N et al. Enzyme replacement therapy for murine mucopolysaccharidosis Type VII. J Clin Invest 1994; 93: 2324-2331.
40. Ohmi K, Greenberg DS, Rajavel KS, Ryazantsev S, Li HH, Neufeld EF. Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB. Proc Natl Acad Sci USA 2003; 100: 1902-1907.
41. Kakkis ED, Matynia A, Jonas AJ, Neufeld EF. Overexpression of the human lysosomal enzyme alpha-L-iduronidase in Chinese hamster ovary cells. Protein Expr Purif 1994; 5: 225-232.
42. Matsushita T, Elliger S, Elliger C, Podsakoff G, Villarreal L, Kurtzman GJ et al. Adeno-associated virus vectors can be efficiently produced without helper virus. Gene Therapy 1998; 5: 938-945.
43. Zolotukhin S, Byrne BJ, Mason E, Zolotukhin I, Potter M, Chesnut K et al. Recombinant adeno-associated virus purification using novel methods improves infectious titer and yield. Gene Therapy 1999; 6: 973-985.
44. Snyder RO, Xiao X, Samulski RJ. Production of recombinant adeno-associated viral vectors. In: Haines JL, Korf BR, Morton CC, Seidman CE, Seidman JG, Smith DR (eds) Current Protocols in Human Genetics. John Wiley and Sons: New York, 1996, pp 12.11.11-12.11.24.