24
Views
1
CrossRef citations to date
0
Altmetric
Drug Profile

Idursulfase: enzyme replacement therapy for mucopolysaccharidosis Type II (Hunter syndrome)

Pages 19-26 | Published online: 10 Jan 2014

References

  • Barton NW, Brady RO, Dambrosia JM et al. Replacement therapy for inherited enzyme deficiency – macrophage-targeted glucocerebrosidase for Gaucher’s disease. N. Engl. J. Med.324(21), 1464–1470 (1991).
  • Barton NW, Furbish FS, Murray GJ, Garfield M, Brady RO. Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proc. Natl Acad. Sci. USA87(5), 1913–1916 (1990).
  • Brady RO, Pentchev PG, Gal AE, Hibbert SR, Dekaban AS. Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase in Gaucher’s disease. N. Engl. J. Med.291(19), 989–993 (1974).
  • Brady RO, Tallman JF, Johnson WG et al. Replacement therapy for inherited enzyme deficiency. Use of purified ceramidetrihexosidase in Fabry’s disease. N. Engl. J. Med.289(1), 9–14 (1973).
  • Grabowski GA, Barton NW, Pastores G et al. Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann. Intern. Med.122(1), 33–39 (1995).
  • Scriver CR. The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, NY, USA (2001).
  • Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA281(3), 249–254 (1999).
  • Tuschl K, Gal A, Paschke E, Kircher S, Bodamer OA. Mucopolysaccharidosis type II in females: case report and review of literature. Pediatr. Neurol.32(4), 270–272 (2005).
  • Young ID, Harper PS. The natural history of the severe form of Hunter’s syndrome: a study based on 52 cases. Dev. Med. Child Neurol.25(4), 481–489 (1983).
  • Young ID, Harper PS. Mild form of Hunter’s syndrome: clinical delineation based on 31 cases. Arch. Dis. Child.57(11), 828–836 (1982).
  • Barton RW, Neufeld EF. The Hurler corrective factor. Purification and some properties. J. Biol. Chem.246(24), 7773–7779 (1971).
  • Hickman S, Neufeld EF. A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes. Biochem. Biophys. Res. Commun.49(4), 992–999 (1972).
  • Sahagian GG, Distler J, Jourdian GW. Characterization of a membrane-associated receptor from bovine liver that binds phosphomannosyl residues of bovine testicular β-galactosidase. Proc. Natl Acad. Sci. USA78(7), 4289–4293 (1981).
  • Wilson PJ, Morris CP, Anson DS et al. Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. Proc. Natl Acad. Sci. USA87(21), 8531–8535 (1990).
  • Hopwood JJ, Bunge S, Morris CP et al. Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene. Hum. Mutat.2(6), 435–442 (1993).
  • Froissart R, Maire I, Millat G et al. Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients. Clin. Genet.53(5), 362–368 (1998).
  • de Jong JG, Hasselman JJ, van Landeghem AA, Vader HL, Wevers RA. The spot test is not a reliable screening procedure for mucopolysaccharidoses. Clin. Chem.37(4), 572–575 (1991).
  • Mabe P, Valiente A, Soto V, Cornejo V, Raimann E. Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and Berry spot tests. Clin. Chim. Acta345(1–2), 135–140 (2004).
  • Parkinson EJ, Muller V, Hopwood JJ, Brooks DA. Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients. Mol. Genet. Metab.81(1), 58–64 (2004).
  • Voznyi YV, Keulemans JL, van Diggelen OP. A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease). J. Inherit. Metab. Dis.24(6), 675–680 (2001).
  • Filocamo M, Bonuccelli G, Corsolini F et al. Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: new mutations in the iduronate-2-sulfatase (IDS) gene. Hum. Mutat.18(2), 164–165 (2001).
  • Li P, Bellows AB, Thompson JN. Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome). J. Med. Genet.36(1), 21–27 (1999).
  • Vafiadaki E, Cooper A, Heptinstall LE et al. Mutation analysis in 57 unrelated patients with MPS II (Hunter’s disease). Arch. Dis. Child.79(3), 237–241 (1998).
  • Krivit W, Peters C, Shapiro EG. Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III. Curr. Opin. Neurol.12(2), 167–176 (1999).
  • Souillet G, Guffon N, Maire I et al. Outcome of 27 patients with Hurler’s syndrome transplanted from either related or unrelated haematopoietic stem cell sources. Bone Marrow Transplant.31(12), 1105–1117 (2003).
  • Peters C, Krivit W. Hematopoietic cell transplantation for mucopolysaccharidosis IIB (Hunter syndrome). Bone Marrow Transplant.25(10), 1097–1099 (2000).
  • Peters C, Steward CG. Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. Bone Marrow Transplant.31(4), 229–239 (2003).
  • Baehner F, Schmiedeskamp C, Krummenauer F et al. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J. Inherit. Metab. Dis.28(6), 1011–1017 (2005).
  • Muenzer J, Lamsa JC, Garcia A et al. Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report. Acta Paediatr. Suppl.91(439), 98–99 (2002).
  • Muenzer J, Wraith JE, Beck M et al. A Phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet. Med.8(8), 465–473 (2006).
  • Harmatz P, Giugliani R, Schwartz I et al. Enzyme replacement therapy for mucopolysaccharidosis VI: a Phase III, 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(4), 533–539 (2006).
  • Wraith JE. The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I. Expert Opin. Pharmacother.6(3), 489–506 (2005).
  • Wraith JE, Clarke LA, Beck M et al. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase). J. Pediatr.144(5), 581–588 (2004).
  • Aviner S, Levy Y, Yaniv I, Cohen IJ. Anaphylactoid reaction to imiglucerase, but not to alglucerase, in a type I Gaucher patient. Blood Cells Mol. Dis.25(2), 92–94 (1999).
  • Eng CM, Guffon N, Wilcox WR et al. Safety and efficacy of recombinant human α-galactosidase A – replacement therapy in Fabry’s disease. N. Engl. J. Med.,345(1), 9–16 (2001).
  • Wilcox WR, Banikazemi M, Guffon N et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am. J. Hum. Genet.75(1), 65–74 (2004).
  • ATS statement: guidelines for the six-minute walk test. Am. J. Respir. Crit. Care Med.166(1), 111–117 (2002).
  • von Specht BU, Geiger B, Arnon R et al. Enzyme replacement in Tay-Sachs disease. Neurology29(6), 848–854 (1979).
  • Kakkis E, McEntee M, Vogler C et al. Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I. Mol. Genet. Metab.83(1–2), 163–174 (2004).
  • Roces DP, Lullmann-Rauch R, Peng J et al. Efficacy of enzyme replacement therapy in α-mannosidosis mice: a preclinical animal study. Hum. Mol. Genet.13(18), 1979–1988 (2004).
  • Vogler C, Levy B, Grubb JH et al. Overcoming the blood–brain–barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII. Proc. Natl Acad. Sci. USA102(41), 14777–14782 (2005).
  • Desnick RJ. Enzyme replacement and enhancement therapies for lysosomal diseases. J. Inherit. Metab. Dis.27(3), 385–410 (2004).
  • Cox TM. Substrate reduction therapy for lysosomal storage diseases. Acta Paediatr. Suppl.94(447), 69–75; discussion 57 (2005).
  • Cardone M, Polito VA, Pepe S et al. Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery. Hum. Mol. Genet.15(7), 1225–1236 (2006).
  • Friso A, Tomanin R, Alba S et al. Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblasts. J. Gene Med.7(11), 1482–1491 (2005).

Websites

  • Online Mendelian Inheritance in Man for MPS II. www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=omim (Accessed 30th November, 2006)
  • Shire Human Genetic Therapeutics, Inc. FDA approval for Elaprase™ (Indursulfase) Injection. Application No.: 125151 www.fda.gov/cder/foi/nda/2006/125151s0000_ElapraseTOC.htm (Accessed 30th November, 2006)
  • Hunter Outcome Survey www.hunterpatients.com/living_with_hunter/survey (Accessed 30th November, 2006)

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.