Gene therapy for mucopolysaccharidosis type VI Is effective in cats without pre-existing immunity to AAV8

Human Gene Therapy

Volumn 24, Issue 2, 2013, Pages 163-169

  Ferla, Rita ^a,b   O'Malley, Thomas ^c   Calcedo, Roberto ^c   O'Donnell, Patricia ^c   Wang, Ping ^c   Cotugno, Gabriella ^a,b   Claudiani, Pamela ^a,b   Wilson, James M ^c   Haskins, Mark ^c   Auricchio, Alberto ^a,b  

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

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LYSOSOME ENZYME; N ACETYLGALACTOSAMINE 4 SULFATASE; PARVOVIRUS VECTOR; THYROXINE BINDING GLOBULIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CAT; CONTROLLED STUDY; DRUG EFFICACY; FEMALE; MALE; MAROTEAUX LAMY SYNDROME; NONHUMAN; PHENOTYPE; SIGNAL TRANSDUCTION;

ANIMALS; ANTIBODIES, NEUTRALIZING; ANTIBODIES, VIRAL; CATS; DEPENDOVIRUS; DOSE-RESPONSE RELATIONSHIP, DRUG; ENZYME ACTIVATION; FEMUR; GENE TRANSFER TECHNIQUES; GENETIC THERAPY; GENETIC VECTORS; GLYCOSAMINOGLYCANS; GREEN FLUORESCENT PROTEINS; LIVER; MUCOPOLYSACCHARIDOSIS VI; N-ACETYLGALACTOSAMINE-4-SULFATASE; PHENOTYPE;

EID: 84874331288     PISSN: 10430342     EISSN: 15577422     Source Type: Journal    
DOI: 10.1089/hum.2012.179     Document Type: Article

References (33)

1. Boutin, S., et al. (2010). Prevalence of serum IgG and neutralizing factors against adeno-associated virus (AAV) types 1, 2, 5, 6, 8, and 9 in the healthy population: implications for gene therapy using AAV vectors. Hum. Gene Ther. 21, 704-712.
2. Brunetti-Pierri, N., and Auricchio, A. (2010). Gene therapy of human inherited diseases. In The Online Metabolic and Molecular Bases of Inherited Diseases. R. Scriver, ed. (McGraw Hill, New York).
3. Calcedo, R., et al. (2009). Worldwide epidemiology of neutralizing antibodies to adeno-associated viruses. J. Infect Dis. 199, 381-390.
4. Cook, J.G. (1975). Factors influencing the assay of creatinine. Ann. Clin. Biochem. 12, 219-232.
5. Cotugno, G., et al. (2010). Different serum enzyme levels are required to rescue the various systemic features of the mucopolysaccharidoses. Hum. Gene Ther. 21, 555-569.
6. Cotugno, G., et al. (2011). Long-term amelioration of feline Mucopolysaccharidosis VI after AAV-mediated liver gene transfer. Mol. Ther. 19, 461-469.
7. Cotugno, G., et al. (2012). Impact of age at administration, lysosomal storage, and transgene regulatory elements on AAV2/8-mediated rat liver transduction. PLoS One 7, e33286.
8. Crawley, A.C., et al. (1996). Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome. J. Clin. Invest. 97, 1864-1873.
9. Davidoff, A.M., et al. (2003). Sex significantly influences transduction of murine liver by recombinant adeno-associated viral vectors through an androgen-dependent pathway. Blood 102, 480-488.
10. Gao, G.P., et al. (2002). Novel adeno-associated viruses from rhesus monkeys as vectors for human gene therapy. Proc. Natl. Acad. Sci. U.S.A. 99, 11854-11859.
11. Gao, G., et al. (2006). Biology of AAV serotype vectors in liverdirected gene transfer to nonhuman primates. Mol. Ther. 13, 77-87.
12. Harmatz, P., et al. (2004). Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr 144, 574-580.
13. Harmatz, P., et al. (2005a). Direct comparison of measures of endurance, mobility, and joint function during enzymereplacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human Nacetylgalactosamine 4-sulfatase. Pediatrics 115, e681-689.
14. Harmatz, P., et al. (2005b). Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study. Acta Paediatr. Suppl. 94, 61-68, discussion 57.
15. Harmatz, P., et al. (2006). Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. J. Pediatr. 148, 533-539.
16. Harmatz, P., et al. (2008). Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Mol. Genet. Metab. 94, 469-475.
17. Haskins, M.E., et al. (1979). Mucopolysaccharide storage disease in three families of cats with arylsulfatase B deficiency: leukocyte studies and carrier identification. Pediatr. Res. 13, 1203-1210.
18. Hurlbut, G.D., et al. (2009). Preexisting immunity and low expression in primates highlight translational challenges for liver-directed AAV8-mediated gene therapy. Mol. Ther. 18, 1983-1994.
19. Manno, C. S., et al. (2006). Successful transduction of liver in hemophilia by AAV-Factor IX and limitations imposed by the host immune response. Nat. Med. 12, 342-347.
20. Nathwani, A.C., et al. (2009). Enhancing transduction of the liver by adeno-associated viral vectors. Gene Ther. 16, 60-69.
21. Nathwani, A.C., et al. (2011a). Long-term safety and efficacy following systemic administration of a self-complementary AAV vector encoding human FIX pseudotyped with serotype 5 and 8 capsid proteins. Mol. Ther. 19, 876-885.
22. Nathwani, A.C., et al. (2011b). Adenovirus-associated virus vector-mediated gene transfer in hemophilia B. N. Engl. J. Med. 365, 2357-2365.
23. Neufeld, E., and Muenzer, J. (2001). The mucopolysaccharidoses. In The Online Metabolic and Molecular Bases of Inherited Disease. R. Scriver, ed. (McGraw Hill, New York), 3421-3452.
24. Paneda, A., et al. (2009). Effect of adeno-associated virus serotype and genomic structure on liver transduction and biodistribution in mice of both genders. Hum. Gene Ther. 20, 908-917.
25. Sands, M.S., and Davidson, B.L. (2006). Gene therapy for lysosomal storage diseases. Mol. Ther. 13, 839-849.
26. Tessitore, A., et al. (2008). Biochemical, pathological, and skeletal improvement of mucopolysaccharidosis VI after gene transfer to liver but not to muscle. Mol. Ther. 16, 30-37.
27. Tessitore, A., et al. (2009). Abnormal autophagy, ubiquitination, inflammation and apoptosis are dependent upon lysosomal storage and are useful biomarkers of mucopolysaccharidosis VI. Pathogenetics 2, 4.
28. Thomas, C. E., et al. (2004). Rapid uncoating of vector genomes is the key to efficient liver transduction with pseudotyped adeno-associated virus vectors. J. Virol. 78, 3110-3122.
29. Wang, L., et al. (2010a). The pleiotropic effects of natural AAV infections on liver-directed gene transfer in macaques. Mol. Ther. 18, 126-134.
30. Wang, L., et al. (2010b). Systematic evaluation of AAV vectors for liver directed gene transfer in murine models. Mol. Ther. 18, 118-125.
31. Wang, L., et al. (2011). Impact of pre-existing immunity on gene transfer to nonhuman primate liver with adeno-associated virus 8 vectors. Hum Gene Ther 22, 1389-1401.
32. Yogalingam, G., et al. (1996). Feline mucopolysaccharidosis type VI. Characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease. J. Biol. Chem. 271, 27259-27265.
33. Yoshida, M., et al. (1993). Arylsulfatase B-deficient mucopolysaccharidosis in rats. J. Clin. Invest. 91, 1099-1104.