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Drug Profile

Laronidase for the treatment of mucopolysaccharidosis type I

Pages 755-768 | Published online: 10 Jan 2014

References

  • Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: The Online Metabolic and Molecular Basis of Inherited Disease. Scriver CR, Beaudet AL, Sly WS et al. (Eds). McGraw-Hill, NY, USA, 1–73 (2004).
  • Walkley SU. Pathogenic cascades in lysosomal disease – why so complex? J. Inherit. Metab. Dis.32, 181–189 (2009).
  • Clarke LA. Mucopolysaccharidosis type I. In: GeneReviews. Pagon RA, Bird TD, Dolan CR, Stephens K (Eds). University of Washington, WA, USA (2007).
  • Murphy AM, Lambert D, Treacy EP, O’meara A, Lynch SA. Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republic. Arch. Dis. Child94, 52–54 (2009).
  • Poorthuis BJ, Wevers RA, Kleijer WJ et al. The frequency of lysosomal storage diseases in The Netherlands. Hum. Genet.105, 151–156 (1998).
  • Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA281, 249–254 (1999).
  • Beesley CE, Meaney CA, Greenland G et al. Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. Hum. Genet.109, 503–511 (2001).
  • Rempel BP, Clarke LA, Withers SG. A homology model for human α-L-iduronidase: insights into human disease. Mol. Genet. Metab.85, 28–37 (2005).
  • Ashton LJ, Brooks DA, McCourt PA et al. Immunoquantification and enzyme kinetics of α-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients. Am. J. Hum. Genet.50, 787–794 (1992).
  • Scott HS, Bunge S, Gal A et al. Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. Hum. Mutat.6, 288–302 (1995).
  • Yogalingam G, Guo XH, Muller VJ et al. Identification and molecular characterization of α-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy. Hum. Mutat.24, 199–207 (2004).
  • Neufeld EF. From serendipity to therapy. Annu. Rev. Biochem.80, 1–15 (2010).
  • Fratantoni JC, Hall CW, Neufeld EF Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science162, 570–572 (1968).
  • Muenzer J, Neufeld EF, Constantopoulos G et al. Attempted enzyme replacement using human amnion membrane implantations in mucopolysaccharidoses. J. Inherit. Metab. Dis.15, 25–37 (1992).
  • Dekaban AS, Holden KR, Constantopoulos G. Effects of fresh plasma or whole blood transfusions on patients with various types of mucopolysaccharidosis. Pediatrics50, 688–692 (1972).
  • Knudson AG, Di Ferrante N, Curtis JE. Effect of leukocyte transfusion in a child with type II mucopolysaccharidosis. Proc. Natl Acad. Sci. USA68, 1738–1741 (1971).
  • Ferrante N, Nichols B, Donnelly P et al. Induced degradation of glycosaminoglycans in Hurler’s and Hunter’s syndromes by plasma infusion. Proc. Natl Acad. Sci. USA68, 303–307 (1971).
  • Hobbs J, Barrett A, Chambers D et al. Reversal of clinical features of hurler’s disease and biochemical improvement after treatment by bone-marrow transplantation. Lancet2, 709–712 (1981).
  • Edmunds T. B-glucocerebrosidase ceredase and cerezyme. In: Directory of Therapeutic Enzymes. McGrath BM, Walsh G (Eds). CRC Press, FL, USA, 117–134 (2005).
  • Prasad VK, Kurtzberg J. Cord blood and bone marrow transplantation in inherited metabolic diseases: scientific basis, current status and future directions. Br. J. Haematol.148, 356–372 (2010).
  • van der Linden MH, Kruyt MC, Sakkers RJB, de Koning TJ, Oner FC, Castelein RM. Orthopaedic management of Hurler’s disease after hematopoietic stem cell transplantation: a systematic review. J. Inherit. Metab. Dis.34, 657–669 (2011).
  • Aldenhoven M, Boelens JJ, de Koning TJ. The clinical outcome of Hurler syndrome after stem cell transplantation. Biol. Blood Marrow Transplant14, 485–498 (2008).
  • Peters C, Shapiro EG, Anderson J et al.; The Storage Disease Collaborative Study Group. Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. Blood91, 2601–2608 (1998).
  • 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 Transplant31, 1105–1117 (2003).
  • Staba SL, Escolar ML, Poe M et al. Cord-blood transplants from unrelated donors in patients with Hurler’s syndrome. N. Engl. J. Med.350, 1960–1969 (2004).
  • Prasad VK, Kurtzberg J. Transplant outcomes in mucopolysaccharidoses. Semin. Hematol.47, 59–69 (2010).
  • Orchard PJ, Milla C, Braunlin E et al. Pre-transplant risk factors affecting outcome in Hurler syndrome. Bone Marrow Transplant45, 1239–1246 (2010).
  • Moore D, Connock MJ, Wraith E, Lavery C. The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler–Scheie and Scheie syndromes in the UK. Orphanet. J. Rare Dis.3, 24–31 (2008).
  • Krivit W, Peters C, Shapiro E. 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, 167–176 (2009).
  • Bjoraker KJ, Delaney K, Peters C, Krivit W, Shapiro EG. Long-term outcomes of adaptive functions for children with mucopolysaccharidosis I (Hurler syndrome) treated with hematopoietic stem cell transplantation. J. Dev. Behav. Pediatr.27, 290–296 (2006).
  • Boelens JJ, Rocha V, Aldenhoven M et al. Risk factor analysis of outcomes after unrelated cord blood transplantation in patients with hurler syndrome. Biol. Blood Marrow Transplant15, 618–625 (2009).
  • Weisstein JS, Delgado E, Steinbach LS, Hart K, Packman S. Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation. J. Ped. Orthop.24, 97–101 (2004).
  • Gullingsrud E, Krivit W, Summers CG. Ocular abnormalities in the mucopolysaccharidoses after bone marrow transplantation longer follow-up. Ophthalmology105, 1099–1105 (2003).
  • Braunlin EA, Stauffer NR, Peters CH et al. Usefulness of bone marrow transplantation in the Hurler syndrome. Am. J. Cardiol.92, 882–886 (2003).
  • Kakkis E. αL-Iduronidase: The development of Aldurazyme (laronidase). In: Directory of Therapeutic Enzymes. McGrath BM, Walsh G (Eds). CRC Press, FL, USA, 239–260 (2005).
  • Kakkis ED, Matynia A, Jonas AJ, Neufeld EF. Overexpression of the human lysosomal enzyme α-L-iduronidase in Chinese hamster ovary cells. Protein Expr. Purif.5, 225–232 (1994).
  • Zhao KW, Faull KF, Kakkis ED, Neufeld EF. Carbohydrate structures of recombinant human α-L-iduronidase secreted by Chinese hamster ovary cells. J. Biol. Chem.272, 22758–22765 (1997).
  • Clements PR, Brooks DA, McCourt PA, Hopwood JJ. Immunopurification and characterization of human α-L-iduronidase with the use of monoclonal antibodies. Biochem. J.259, 199–208 (1989).
  • Clements PR, Brooks DA, Saccone GT, Hopwood JJ. Human α-L-iduronidase. 1. Purification, monoclonal antibody production, native and subunit molecular mass. Eur. J. Biochem.152, 21–28 (1985).
  • Clements PR, Muller V, Hopwood JJ. Human α-L-iduronidase. 2. Catalytic properties. Eur. J. Biochem.152, 29–34 (1985).
  • Freeman C, Hopwood JJ. Human α-L-iduronidase. Catalytic properties and an integrated role in the lysosomal degradation of heparan sulphate. Biochem. J.282(Pt 3), 899–908 (1992).
  • Clarke LA. The mucopolysaccharidoses: a success of molecular medicine. Expert Rev. Mol. Med.10, e1 (2008).
  • Simonaro CM, D’Angelo M, He X et al. Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases. Am. J. Pathol.172, 112–122 (2007).
  • Woloszynek JC, Coleman T, Semenkovich CF, Sands MS. Lysosomal dysfunction results in altered energy balance. J. Biol. Chem.282, 35765–35771 (2007).
  • Stahl PD. The macrophage mannose receptor: current status. Am. J. Respir. Cell Mol. Biol.2, 317–318 (1990).
  • Stahl PD. The mannose receptor and other macrophage lectins. Curr. Opin. Immunol.4, 49–52 (1992).
  • Achord DT, Brot FE, Bell CE, Sly WS. Human β-glucuronidase: in vivo clearance and in vitro uptake by a glycoprotein recognition system on reticuloendothelial cells. Cell15, 269–278 (1978).
  • Kornfeld S. Trafficking of lysosomal enzymes in normal and disease states. J. Clin. Invest.77, 1–6 (1985).
  • LeBowitz JH, Grubb JH, Maga JA et al. Glycosylation-independent targeting enhances enzyme delivery to lysosomes and decreases storage in mucopolysaccharidosis type VII mice. Proc. Natl Acad. Sci. USA101, 3083–3088 (2004).
  • Green I, Christison R, Voyce CJ, Bundell KR, Lindsay MA. Protein transduction domains: are they delivering? Trends Pharmacol. Sci.24, 213–215 (2003).
  • Ghosh P, Dahms NM, Kornfeld S. Mannose 6-phosphate receptors: new twists in the tale. Nat. Rev. Mol. Cell Biol.4, 202–213 (2003).
  • Unger EG, Durrant J, Anson DS, Hopwood JJ. Recombinant α-L-iduronidase: characterization of the purified enzyme and correction of mucopolysaccharidosis type I fibroblasts. Biochem. J.304(Pt 1), 43–49 (1994).
  • Shull RM, Kakkis ED, McEntee MF et al. Enzyme replacement in a canine model of Hurler syndrome. Proc. Natl Acad. Sci. USA91, 12937–12941 (1994).
  • Kakkis ED, McEntee MF, Schmidtchen A et al. Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I. Biochem. Mol. Med.58, 156–167 (1996).
  • Wraith JE, Beck M, Lane R et al. Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human α-L-iduronidase (laronidase). Pediatrics120, e37–46 (2007).
  • Kakkis ED, Muenzer J, Tiller GE et al. Enzyme-replacement therapy in mucopolysaccharidosis I. N. Eng. J. Med.344, 182–188 (2001).
  • Sifuentes M, Doroshow R, Hoft R et al. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol. Genet. Metab.90, 171–180 (2007).
  • 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, 581–588 (2004).
  • Clarke LA, Wraith JE, Beck M et al. Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics123, 229–240 (2009).
  • Giugliani R, Rojas VM, Martins AM et al. A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I. Mol. Genet. Metab.96, 13–19 (2009).
  • Munoz-Rojas MV, Vieira T, Costa R et al. Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression. Am. J. Med. Genet.146A(19), 2538–2544 (2008).
  • Dickson P, McEntee M, Vogler C et al. Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid. Mol. Genet. Metab.91, 61–68 (2007).
  • Kakkis E, Lester T, Yang R et al. Successful induction of immune tolerance to enzyme replacement therapy in canine mucopolysaccharidosis I. Proc. Natl Acad. Sci. USA101, 829–834 (2004).
  • Dickson P, Peinovich M, McEntee M et al. Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis I. J. Clin. Invest.118, 2868–2876 (2008).
  • Wynn RF, Mercer J, Page J et al. Use of enzyme replacement therapy (laronidase) before hematopoietic stem cell transplantation for mucopolysaccharidosis I: experience in 18 patients. J. Pediatr.154, 135–139 (2009).
  • Tolar J, Grewal SS, Bjoraker KJ et al. Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome. Bone Marrow Transplant41, 531–535 (2008).
  • Vélez-Díaz-Pallarés M, Sánchez Cuervo M, Martínez-Pardo Casanova M, Bermejo Vicedo T. Laronidase for treating post-surgical respiratory failure in a patient with type I mucopolysaccharidosis. Farm. Hosp. DOI:10.1016/j.farma.2010.11.005 (2011) (Epub ahead of print).
  • Harada H, Uchiwa H, Nakamura M et al. Laronidase replacement therapy improves myocardial function in mucopolysaccharidosis I. Mol. Genet. Metab.103, 215–219 (2011).
  • Biernacka M, Jakubowska-Winecka A, Tylki-Szymanska A. The development of cognitive functions in children with Hurler phenotype mucopolysaccharidosis type I on enzyme replacement therapy with laronidase. Pediatr. Endocrinol. Diabetes Metab.16, 249–254 (2010).
  • Tylki-Szymanska A, Rozdzynska A, Jurecka A, Marucha J, Czartoryska B. Anthropometric data of 14 patients with mucopolysaccharidosis I: retrospective analysis and efficacy of recombinant human α-L-iduronidase (laronidase). Mol. Genet. Metab.99, 10–17 (2010).
  • Valayannopoulos V, de Blic J, Mahlaoui N et al. Laronidase for cardiopulmonary disease in Hurler syndrome 12 years after bone marrow transplantation. Pediatrics126, e1242–e1247 (2010).
  • Tylki-Szymanska A, Marucha J, Jurecka A, Syczewska M, Czartoryska. B Efficacy of recombinant human α-L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients. J. Inherit. Metab. Dis.33, 151–157 (2010).
  • Valayannopoulos V, Boddaert N, Barbier V et al. Cognitive and neuroradiological improvement in three patients with attenuated MPS I treated by laronidase. Mol. Genet. Metab.100, 20–23 (2010).
  • Gabrielli O, Clarke LA, Bruni S, Coppa GV. Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up. Pediatrics125, e183–e187 (2010).
  • Anbu AT, Mercer J, Wraith JE. Effect of discontinuing of laronidase in a patient with mucopolysaccharidosis type I. J. Inherit. Metab. Dis.29, 230–231 (2010).
  • Soutar RL, Mercer J, Wraith JE. Impact of 144 weeks of laronidase therapy on body functions, endurance and general well-being in a Hurler–Scheie patient. J. Inherit. Metab. Dis.29, 590–591 (2006).
  • Arora RS, Mercer J, Thornley M, Tylee K, Wraith JE. Enzyme replacement therapy in 12 patients with MPS I-H/S with homozygous p.Leu490Pro mutation. J. Inherit. Metab. Dis.30, 821–825 (2007).
  • Hirth A, Berg A, Greve G. Successful treatment of severe heart failure in an infant with Hurler syndrome. J. Inherit. Metab. Dis.30, 820 (2007).
  • Pitz S, Ogun O, Bajbouj M et al. Ocular changes in patients with mucopolysaccharidosis I receiving enzyme replacement therapy: a 4-year experience. Arch. Ophthalmol.125, 1353–1356 (2007).
  • Cáceres-Marzal C, García-Reymundo M, Solana J et al. Decreased corneal opacity and improved vision in a patient with mucopolysaccharidosis I (Hurler–Scheie) treated with enzyme replacement therapy (laronidase, Aldurazyme). Am. J. Med. Genet.146A, 1768–1770 (2008).
  • Yano S, Moseley K, Pavlova Z. Postmortem studies on a patient with mucopolysaccharidosis type I: histopathological findings after one year of enzyme replacement therapy. J. Inherit. Metab. Dis.1057–1064 (2009).
  • Thomas JA, Jacobs S, Kierstein J, van Hove J. Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome. J. Inherit. Metab. Dis.29, 762 (2006).
  • Tokic V, Barisic I, Huzjak N et al. Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I. Eur. J. Pediatr.166, 727–732 (2007).
  • Kloska A, Bohdanowicz J, Konopa G et al. Changes in hair morphology of mucopolysaccharidosis I patients treated with recombinant human alpha-L-iduronidase (laronidase, Aldurazyme). Am. J. Med. Genet.139, 199–203 (2005).
  • Pastores GM, Arn P, Beck M et al. The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with mucopolysaccharidosis type I. Mol. Genet. Metab.91, 37–47 (2007).
  • Munoz-Rojas M-V, Bay L, Sanchez L et al. Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world. J. Inherit. Metab. Dis.34(5), 1029–1037 (2011).
  • Cox-Brinkman J, Timmermans RGM, Wijburg FA et al. Home treatment with enzyme replacement therapy for mucopolysaccharidosis type I is feasible and safe. J. Inherit. Metab. Dis.30, 984 (2007).
  • de Jong JG, Heijs WM, Wevers RA Mucopolysaccharidoses screening: dimethylmethylene blue versus alcian blue. Ann. Clin. Biochem.31(Pt 3), 267–271 (1994).
  • McGill JJ, Inwood AC, Coman DJ et al. Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age – a sibling control study. Clin. Genet.77, 492–498 (2010).
  • Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet. Med.13, 457–484 (2011).
  • Wynn RF, Wraith JE, Mercer J et al. Improved metabolic correction in patients with lysosomal storage disease treated with hematopoietic stem cell transplant compared with enzyme replacement therapy. J. Pediatr.154, 609–611 (2009).
  • Randall DR, Colobong KE, Hemmelgarn H et al. Heparin cofactor II – thrombin complex: a biomarker of MPS disease. Mol. Genet. Metab.94, 456–461 (2008).
  • Langford-Smith KJ, Mercer J, Petty J et al. Heparin cofactor II–thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases. J. Inherit. Metab. Dis.34, 499–508 (2011).
  • Randall DR, Sinclair GB, Colobong KE, Hetty E, Clarke LA. Heparin cofactor II–thrombin complex in MPS I: a biomarker of MPS disease. Mol. Genet. Metab.88, 235–243 (2006).
  • Clarke LA, Hemmelgarn H, Colobong K et al. Longitudinal observations of serum heparin cofactor II–thrombin complex in treated mucopolysaccharidosis I and II patients. J. Inherit. Metab. Dis. DOI: 10.1007/s10545-011-9369-6 (2011) (Epub ahead of print).

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