Review of the use of idursulfase in the treatment of mucopolysaccharidosis II

Biologics: Targets and Therapy

Volumn 2, Issue 2, 2008, Pages 311-320

  Andrew Burrow, T ^a   Leslie, Nancy D ^a  

^a UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

Enzyme replacement therapy; Hunter syndrome; Mucopolysaccharidosis type II

Indexed keywords

EID: 79960158939     PISSN: 11775475     EISSN: 11775491     Source Type: Journal    
DOI: None     Document Type: Review

References (50)

1. Baehner F, Schmiedeskamp C, Krummenauer F, et al. 2005. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis, 28:1011-7.
2. Beck M, Cole G. 1984. Disc oedema in association with Hunter's syndrome: ocular histopathological findings. Br J Ophthalmol, 68:590-4.
3. Bhattacharya K, Gibson SC, Pathi VL. 2005. Mitral valve replacement for mitral stenosis secondary to Hunter's syndrome. Ann Thorac Surg, 80:1911-2.
4. Burrow TA, Hopkin RJ, Leslie ND, et al. 2007. Enzyme reconstitution/ replacement therapy for lysosomal storage diseases. Curr Opin Pediatr, 19:628-35.
5. Cardone M, Polito VA, Pepe S, et al. 2006. Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery. Hum Mol Genet, 15:1225-36.
6. Coppa GV, Gabrielli O, Zampini L, et al. 1995. Bone marrow transplantation in Hunter syndrome. J Inherit Metab Dis, 18:91-2.
7. Cox T, Lachmann R, Hollak C, et al. 2000. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin OGT 918. to decrease substrate biosynthesis. Lancet, 355:1481-5.
8. Dangel JH. 1998. Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders - clinical and echocardiographic findings in 64 patients. Eur J Pediatr, 157:534-8.
9. Dickson P, McEntee M, Vogler C, et al. 2007. Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid. Mol Genet Metab, 91:61-8.
10. Dierks T, Schmidt B, Borissenko LV, et al. 2003. Multiple sulfatase deficiency is caused by mutations in the gene encoding the human Calpha.-formylglycine generating enzyme. Cell, 113:435-44.
11. Elsner B. 1970. Ultrastructure of the rectal wall in Hunter's syndrome. Gastroenterology, 58:856-62.
12. Elstein D, Hollak C, Aerts JM, et al. 2004. Sustained therapeutic effects of oral miglustat Zavesca, N-butyldeoxynojirimycin, OGT 918. in type I Gaucher disease. J Inherit Metab Dis, 27:757-66.
13. Friso A, Tomanin R, Alba S, et al. 2005. Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblasts. J Gene Med, 7:1482-91.
14. Froissart R, Da Silva IM, Maire I. 2007. Mucopolysaccharidosis type II: an update on mutation spectrum. Acta Paediatr Suppl, 96:71-7.
15. Froissart R, Maire I, Millat G, et al. 1998. Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients. Clin Genet, 53:362-8.
16. Froissart R, Moreira Da Silva I, Guffon N, et al. 2002. Mucopolysaccharidosis type II - genotype/phenotype aspects. Acta Paediatr Suppl, 91:82-7.
17. Garcia AR, Dacosta JM, Pan J, et al. 2007a. Preclinical dose ranging studies for enzyme replacement therapy with idursulfase in a knock-out mouse model of MPS II. Mol Genet Metab, 91:183-90.
18. Garcia AR, Pan J, Lamsa JC, et al. 2007b. The characterization of a murine model of mucopolysaccharidosis II Hunter syndrome. J Inherit Metab Dis, 30:924-34.
19. Haddad FS, Jones DH, Vellodi A, et al. 1997. Carpal tunnel syndrome in the mucopolysaccharidoses and mucolipidoses. J Bone Joint Surg Br, 79:576-82.
20. Hong Y, Yu SS, Kim JM, et al. 2003. Construction of a high efficiency retroviral vector for gene therapy of Hunter's syndrome. J Gene Med, 5:18-29.
21. Hopwood JJ, Bunge S, Morris CP, et al. 1993. Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene. Hum Mutat, 2:435-42.
22. Krawczak M, Cooper DN. 1997. The human gene mutation database. Trends Genet, 13:121-2.
23. McKinnis EJ, Sulzbacher S, Rutledge JC, et al. 1996. Bone marrow transplantation in Hunter syndrome. J Pediatr, 129:145-8.
24. Mohan UR, Hay AA, Cleary MA, et al. 2002. Cardiovascular changes in children with mucopolysaccharide disorders. Acta Paediatr, 91:799-804.
25. Muenzer J, Gucsavas-Calikoglu M, McCandless SE, et al. 2007. A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II Hunter syndrome. Mol Genet Metab, 90:329-37.
26. Muenzer J, Lamsa JC, Garcia A, et al. 2002. Enzyme replacement therapy in mucopolysaccharidosis type II Hunter syndrome.: a preliminary report. Acta Paediatr Suppl, 91:98-9.
27. Muenzer J, Wraith JE, Beck M, et al. 2006. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II Hunter syndrome. Genet Med, 8:465-73.
28. Mullen CA, Thompson JN, Richard LA, et al. 2000. Unrelated umbilical cord blood transplantation in infancy for mucopolysaccharidosis type IIB Hunter syndrome. complicated by autoimmune hemolytic anemia. Bone Marrow Transplant, 25:1093-7.
29. Neufeld EF, Muenzer J. 2001. The mucopolysaccharidoses. In Scriver CR, Beaudet Al, Sly WS, et al. (eds). The metabolic and molecular basis of inherited disease. 8th ed. New York, McGraw-Hill.
30. O'Brien DP, Cowie RA, Wraith JE. 1997. Cervical decompression in mild mucopolysaccharidosis type II Hunter syndrome. Childs Nerv Syst, 13:87-90.
31. Parsons VJ, Hughes DG, Wraith JE. 1996. Magnetic resonance imaging of the brain, neck and cervical spine in mild Hunter's syndrome mucopolysaccharidoses type II. Clin Radiol, 51:719-23.
32. Poorthuis BJ, Wevers RA, Kleijer WJ, et al. 1999. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet, 105:151-6.
33. Rathmann M, Bunge S, Beck M, et al. 1996. Mucopolysaccharidosis type II Hunter syndrome: mutation "hot spots" in the iduronate-2-sulfatase gene. Am J Hum Genet, 59:1202-9.
34. Schwartz IV, Ribeiro MG, Mota JG, et al. 2007. A clinical study of 77 patients with mucopolysaccharidosis type II. Acta Paediatr Suppl, 96:63-70.
35. Shapiro EG, Lockman LA, Balthazor M, et al. 1995. Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation. J Inherit Metab Dis, 18:413-29.
36. Spranger JW, Brill PW, Poznanski A. 2002. Bone dysplasias: An atlas of genetic disorders of skeletal development. New York, NY: Oxford University Press.
37. Stenson PD, Ball EV, Mort M, et al. 2003. Human Gene Mutation Database HGMD.: 2003 update. Hum Mutat, 21:577-81.
38. Stroncek DF, Hubel A, Shankar RA, et al. 1999. Retroviral transduction and expansion of peripheral blood lymphocytes for the treatment of mucopolysaccharidosis type II, Hunter's syndrome. Transfusion, 39:343-50.
39. Tuschl K, Gal A, Paschke E, et al. 2005. Mucopolysaccharidosis type II in females: case report and review of literature. Pediatr Neurol, 32:270-2.
40. Vafiadaki E, Cooper A, Heptinstall LE, et al. 1998. Mutation analysis in 57 unrelated patients with MPS II Hunter's disease. Arch Dis Child, 79:237-41.
41. Vellodi A, Young E, Cooper A, et al. 1999. Long-term follow-up following bone marrow transplantation for Hunter disease. J Inherit Metab Dis, 22:638-48.
42. Wilson PJ, Morris CP, Anson DS, et al. 1990. Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. Proc Natl Acad Sci USA, 87:8531-5.
43. Wraith JE, Burton BK, Muenzer J, et al. 2007. Clinical characteristics of patients with mucopolysaccharidosis type II: The Hunter Outcome Survey HOS. [abstract 1488]. Presented at the annual meeting of The American Society of Human Genetics, October 25, 2007, San Diego, California. URL: http://www.ashg.org/genetics/ashg06s/index.shtml.
44. Wraith JE, Scarpa M, Beck M, et al. 2008. Mucopolysaccharidosis type II Hunter syndrome.: a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr, 167:267-77.
45. Young ID, Harper PS. 1981. Psychosocial problems in Hunter's syndrome. Child Care Health Dev, 7:201-9.
46. Young ID, Harper PS. 1982. Mild form of Hunter's syndrome: clinical delineation based on 31 cases. Arch Dis Child, 57:828-36.
47. Young ID, Harper PS. 1983. The natural history of the severe form of Hunter's syndrome: a study based on 52 cases. Dev Med Child Neurol, 25:481-9.
48. Young ID, Harper PS, Newcombe RG, et al. 1982. A clinical and genetic study of Hunter's syndrome. 2. Differences between the mild and severe forms. J Med Genet, 19:408-11.
49. Yu Z, Sawkar AR, Kelly JW. 2007a. Pharmacologic chaperoning as a strategy to treat Gaucher disease. Febs J, 274:4944-50.
50. Yu Z, Sawkar AR, Whalen LJ, et al. 2007b. Isofagomine- and 2,5-anhydro- 2,5-imino-D-glucitol-based glucocerebrosidase pharmacological chaperones for Gaucher disease intervention. J Med Chem, 50:94-100.