Long-term intra-articular administration of recombinant human N-acetylgalactosamine-4-sulfatase in feline mucopolysaccharidosis VI

Molecular Genetics and Metabolism

Volumn 91, Issue 4, 2007, Pages 352-361

  Auclair, Dyane ^a   Hopwood, John J ^a,d   Lemontt, Jeffrey F ^c   Chen, Lin ^c   Byers, Sharon ^b,d  

^a Lysosomal Diseases Research Unit   (Australia)

^b Matrix Biology Unit   (Australia)

^c BIOMARIN PHARMACEUTICAL INC   (United States)

^d UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

Cartilage; Enzyme replacement therapy; Intra articular injection; Joint disease; Mucopolysaccharidosis type VI; Synovium

Indexed keywords

CYPROHEPTADINE; DEXCHLORPHENIRAMINE MALEATE; GLYCOSAMINOGLYCAN; N ACETYLGALACTOSAMINE 4 SULFATASE; URONIC ACID;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ANTIBODY TITER; ARTICLE; CONTROLLED STUDY; ENZYME REPLACEMENT; LYSOSOME STORAGE DISEASE; MAROTEAUX LAMY SYNDROME; NONHUMAN; OSTEOARTHRITIS; PRIORITY JOURNAL; TREATMENT OUTCOME;

ANIMALS; CARTILAGE; CATS; DISEASE MODELS, ANIMAL; DRUG ADMINISTRATION SCHEDULE; HUMANS; INJECTIONS, INTRA-ARTICULAR; JOINTS; LYSOSOMES; MICE; MUCOPOLYSACCHARIDOSIS VI; N-ACETYLGALACTOSAMINE-4-SULFATASE; PHENOTYPE; RECOMBINANT PROTEINS;

FELIDAE;

EID: 34447266922     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.04.009     Document Type: Article

References (31)

1. Neufeld E.F., and Muenzer J. The mucopolysaccharidoses. In: Scriver C.R., Beaudet A.L., and Sly W.S. (Eds). The Metabolic and Molecular Basis of Inherited Disease (2001), McGraw-Hill, New York 3421-3452
2. Pilz H., von Figura K., and Goebel H.H. Deficiency of arylsulfatase B in 2 brothers aged 40 and 38 years (Maroteaux-Lamy Syndrome, type B). Ann. Neurol. 6 (1979) 315-325
3. Keller C.H., Briner J., Schneider J., Spycher M., Rampini S., and Gitzelmann R. Mukopolysaccharidosis Typ VI-A (Morbus Maroteaux-Lamy): Korrelation der klinishen und pathologisch-anatomischen befunde bei einem 27 jahren patienten. Helv. Paedia. Acta 42 (1987) 317-333
4. Crawley A.C., Niedzielski K.H., Isaac E.L., Davey R.C.A., Byers S., and Hopwood J.J. Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI. J. Clin. Invest. 99 (1997) 651-662
5. Crawley A.C., Yogalingam G., Muller V.J., and Hopwood J.J. Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes. J. Clin. Invest. 101 (1998) 109-119
6. Cowell K.R., Jezyk P.F., Haskins M.E., and Patterson D.F. Mucopolysaccharidosis in a cat. J. Am. Vet. Med. Assoc. 169 (1976) 334-339
7. Haskins M.E., Jezyk P.F., and Patterson D.F. Mucopolysaccharidosis storage disease in three families of cats with arylsulfatase B deficiency: leukocyte studies and carrier identification. Pediatr. Res. 13 (1979) 1203-1210
8. Breton L., Guerin P., and Morin M. A case of mucopolysaccharidosis VI in a cat. J. Am. Anim. Hosp. Assoc. 19 (1983) 891-896
9. Konde L.J., Thrall M.A., Gasper P., Dial S.M., McBiles K., Colgan S., and Haskins M. Radiographically visualised skeletal changes associated with mucopolysaccharidosis VI in cats. Vet. Radiol. 28 (1987) 223-228
10. Crawley A.C., Brooks D.A., Muller V.J., Petersen B.A., Isaac E.L., Bielicki J., King B.M., Boulter C.D., Moore A.J., Fazzalari N.L., Anson D.S., Byers S., and Hopwood J.J. Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome. J. Clin. Invest. 97 (1996) 1864-1873
11. Macri B., Marino F., Mazullo G., Trusso A., De Maria R., Amedeo S., Divari S., and Castagnaro M. Mucopolysaccharidosis VI in a Siamese/short-haired European cat. J. Vet. Med. A Physiol. Pathol. Clin. Med. 49 (2002) 438-442
12. Haskins M.E., Aguirre G.D., Jezyk P.F., and Patterson D.F. Pathology of the feline model of mucopolysaccharidosis VI. Am. J. Pathol. 101 (1980) 657-674
13. Simonaro C.M., Haskins M.E., and Schuchman E.H. Articular chondrocytes from animals with dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: a possible mechanism underlying degenerative joint disease in the mucopolysaccharidoses. Lab. Invest. 81 (2001) 1319-1328
14. Simonaro C.M., D'Angelo M., Haskins M.E., and Schuchman E.H. Joint and bone disease in mucopolysaccharidoses VI and VII: Identification of new therapeutic targets and biomarkers using animal models. Pediatr. Res. 57 (2005) 701-707
15. Krivit W. Stem cell bone marrow transplantation in patients with metabolic storage diseases. Adv. Pediatr. 49 (2002) 359-378
16. Herskhovitz E., Young E., Rainer J., Hall C.M., Lidchi V., Chong K., and Vellodi A. Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): long term follow up. J. Inherit. Metab. Dis. 22 (1999) 50-62
17. Harmatz P., Whitley C.B., Waber L., Pais R., Steiner R., Plecko B., Kaplan P., Simon J., Butensky E., and Hopwood J.J. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J. Pediatr. 144 (2004) 574-580
18. Harmatz P., Giugliani R., Schwartz I., Guffon N., Teles E.L., Miranda M.C., Wraith J.E., Beck M., Arash L., and Scarpa M. 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 (2006) 533-539
19. Auclair D.A., Hopwood J.J., Brooks D.A., Lemontt J.F., and Crawley A.C. Replacement therapy in mucopolysaccharidosis type VI: advantages of early onset of therapy. Mol. Genet. Metab. 78 (2003) 163-174
20. Byers S., Nuttall J.D., Crawley A.C., Hopwood J.J., Smith K., and Fazzalari N.L. Effect of enzyme replacement therapy on bone formation in a feline model of mucopolysaccharidosis type VI. Bone 21 (1997) 425-431
21. Auclair D., Hein L.K., Hopwood J.J., and Byers S. Intra-articular enzyme administration for joint disease in feline mucopolysaccharidosis VI: enzyme dose and interval. Pediatr. Res. 59 (2006) 538-543
22. Mango R.L., Xu L., Sands M.S., Vogler C., Seiler G., Schwarz T., Haskins M.E., and Ponder K.P. Neonatal retroviral-mediated hepatic gene therapy reduces bone, joint, and cartilage disease in mucopolysaccharidosis VII mice and dogs. Mol. Genet. Metab. 82 (2004) 4-19
23. Yogalingam G., Litjens T., Bielicki J., Crawley A.C., Muller V., Anson D.S., and Hopwood J.J. Feline mucopolysaccharidosis Type VI: characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease. J. Biol. Chem. 271 (1996) 27259-27265
24. De LaHunta A. Veterinary Neuroanatomy and Clinical Neurology. second ed. (1983), W.B. Saunders Company, Philadelphia
25. de Jong J.G.N., Wevers R.A., and Liebrand-van Sambeek R. Measuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue. Clin. Chem. 38 (1992) 803-880
26. Blumenkrantz N., and Asboe-Hansen G. New method for quantitative determination of uronic acids. Anal. Biochem. 54 (1973) 484-489
27. Byers S., Crawley A.C., Brumfield L.K., Nuttall J.D., and Hopwood J.J. Enzyme replacement therapy in feline model of MPS VI: modification of enzyme structure and dose frequency. Pediatr. Res. 47 (2000) 743-749
28. Levick J.R. Microvasculature architecture and exchange in synovial joints. Microcirculation 2 (1995) 217-233
29. Hunter G.K., Rogakou C.C., and Pritzker K.P. Extracellular matrix synthesis by articular chondrocytes and synovial fibroblasts in long-term monolayer culture. Biochem. Biophys. Acta 804 (1984) 459-465
30. Fillat C., Simonaro C.M., Yeyati P.L., Abkowitz J.L., Haskins M.E., and Schuchmann E.H. Arylsulfatase B activities and glycosaminoglycan levels in retrovirally transduced mucopolysaccharidosis type VI cells. Prospect for gene therapy. J. Clin. Invest. 98 (1996) 497-502
31. Lajeunesse D., and Reboul P. Subchondral bone in osteoarthritis: a biological link with articular cartilage leading to abnormal remodelling. Curr. Opin. Rheumatol. 15 (2003) 628-633