Current and potential therapeutic strategies for mucopolysaccharidoses

Journal of Clinical Pharmacy and Therapeutics

Volumn 39, Issue 3, 2014, Pages 215-224

  Noh, H ^a   Lee, J I ^a  

^a Yonsei University   (South Korea)

Author keywords

enzyme replacement therapy; glycosaminoglycan; lysosomal storage disease; mucopolysaccharidosis; rare disease; substrate reduction therapy; systematic review; treatment strategies

Indexed keywords

GALSULFASE; GENISTEIN; IDURONATE 2 SULFATASE; LARONIDASE; MIGLUSTAT;

CLINICAL FEATURE; DISEASE CLASSIFICATION; ENZYME REPLACEMENT; EX VIVO GENE TRANSFER; EXPERIMENTAL THERAPY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HUNTER SYNDROME; HURLER SYNDROME; MAROTEAUX LAMY SYNDROME; MORQUIO SYNDROME; MUCOPOLYSACCHARIDOSIS; MUCOPOLYSACCHARIDOSIS TYPE 7; NATOWICZ SYNDROME; PATHOPHYSIOLOGY; PHASE 1 CLINICAL TRIAL (TOPIC); PHASE 2 CLINICAL TRIAL (TOPIC); PHASE 3 CLINICAL TRIAL (TOPIC); RANDOMIZED CONTROLLED TRIAL (TOPIC); REVIEW; SANFILIPPO SYNDROME; STUDY; SUBSTRATE REDUCTION THERAPY; THERAPY; CLASSIFICATION; GENE THERAPY; MUCOPOLYSACCHARIDOSES; PROCEDURES; RARE DISEASE;

ENZYME REPLACEMENT THERAPY; GENETIC THERAPY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; MUCOPOLYSACCHARIDOSES; RARE DISEASES;

EID: 84899454204     PISSN: 02694727     EISSN: 13652710     Source Type: Journal    
DOI: 10.1111/jcpt.12136     Document Type: Review

References (118)

1. Neufeld EF, Muenzer J,. The mucopolysaccharidoses. In:, Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease, 8th edn, McGraw Hill, New York, 3421-3452, 2001.
2. Wraith JE,. The mucopolysaccharidoses: a clinical review and guide to management. Arch Dis Child, 1995; 72: 263-267.
3. Muenzer J,. Overview of the mucopolysaccharidoses. Rheumatology (Oxford), 2011; 50 (Suppl 5): v4-v12.
4. D'Aco K, Underhill L, Rangachari L, et al,. Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. Eur J Pediatr, 2012; 171: 911-919.
5. Jurecka A, Krumina Z, Zuber Z, Rozdzynska-Swiatkowska A, Kloska A, Czartoryska B, Tylki-Szymanska A,. Mucopolysaccharidosis type II in females and response to enzyme replacement therapy. Am J Med Genet A, 2012; 158a: 450-454.
6. Wraith JE, Beck M, Giugliani R, Clarke J, Martin R, Muenzer J,. Initial report from the Hunter Outcome Survey. Genet Med, 2008; 10: 508-516.
7. Martin R, Beck M, Eng C, Giugliani R, Harmatz P, Munoz V, Muenzer J,. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics, 2008; 121: e377-e386.
8. Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA,. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis, 2008; 31: 240-252.
9. Pan D,. Cell- and gene-based therapeutic approaches for neurological deficits in mucopolysaccharidoses. Curr Pharm Biotechnol, 2011; 12: 884-896.
10. van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA,. Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C). Clin Genet, 1981; 20: 152-160.
11. Ellinwood NM, Ausseil J, Desmaris N, et al,. Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes. Mol Ther, 2011; 19: 251-259.
12. Tomatsu S, Montano AM, Oikawa H, et al,. Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment. Curr Pharm Biotechnol, 2011; 12: 931-945.
13. Montano AM, Tomatsu S, Gottesman GS, Smith M, Orii T,. International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis, 2007; 30: 165-174.
14. Giugliani R, Harmatz P, Wraith JE,. Management guidelines for mucopolysaccharidosis VI. Pediatrics, 2007; 120: 405-418.
15. Valayannopoulos V, Nicely H, Harmatz P,. Mucopolysaccharidosis VI. Orphanet J Rare Dis, 2010; 5: 5.
16. Tomatsu S, Montano AM, Dung VC, Grubb JH, Sly WS,. Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). Hum Mutat, 2009; 30: 511-519.
17. Rowan DJ, Tomatsu S, Grubb JH, et al,. Long circulating enzyme replacement therapy rescues bone pathology in mucopolysaccharidosis VII murine model. Mol Genet Metab, 2012; 107: 161-172.
18. Imundo L, Leduc CA, Guha S, et al,. A complete deficiency of Hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritis. J Inherit Metab Dis, 2011; 34: 1013-1022.
19. Natowicz MR, Short MP, Wang Y, et al,. Clinical and biochemical manifestations of hyaluronidase deficiency. N Engl J Med, 1996; 335: 1029-1033.
20. Gandhi NS, Mancera RL,. The structure of glycosaminoglycans and their interactions with proteins. Chem Biol Drug Des, 2008; 72: 455-482.
21. Clarke LA,. The mucopolysaccharidoses: a success of molecular medicine. Expert Rev Mol Med, 2008; 10: e1.
22. Walkley SU,. Pathogenic cascades in lysosomal disease-Why so complex? J Inherit Metab Dis, 2009; 32: 181-189.
23. Bandtlow CE, Zimmermann DR,. Proteoglycans in the developing brain: new conceptual insights for old proteins. Physiol Rev, 2000; 80: 1267-1290.
24. Morawski M, Bruckner MK, Riederer P, Bruckner G, Arendt T,. Perineuronal nets potentially protect against oxidative stress. Exp Neurol, 2004; 188: 309-315.
25. Fratantoni JC, Hall CW, Neufeld EF,. Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science, 1968; 162: 570-572.
26. Walkley SU,. Pathogenic mechanisms in lysosomal disease: a reappraisal of the role of the lysosome. Acta Paediatr Suppl, 2007; 96: 26-32.
27. Beck M,. Therapy for lysosomal storage disorders. IUBMB Life, 2010; 62: 33-40.
28. Vitner EB, Platt FM, Futerman AH,. Common and uncommon pathogenic cascades in lysosomal storage diseases. J Biol Chem, 2010; 285: 20423-20427.
29. McGlynn R, Dobrenis K, Walkley SU,. Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders. J Comp Neurol, 2004; 480: 415-426.
30. Walkley SU,. Secondary accumulation of gangliosides in lysosomal storage disorders. Semin Cell Dev Biol, 2004; 15: 433-444.
31. Walkley SU, Zervas M, Wiseman S,. Gangliosides as modulators of dendritogenesis in normal and storage disease-affected pyramidal neurons. Cereb Cortex, 2000; 10: 1028-1037.
32. Ohmi K, Greenberg DS, Rajavel KS, Ryazantsev S, Li HH, Neufeld EF,. Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB. Proc Natl Acad Sci USA, 2003; 100: 1902-1907.
33. d'Azzo A, Tessitore A, Sano R, Gangliosides as apoptotic signals in ER stress response. Cell Death Differ, 2006; 13: 404-414.
34. Simonaro CM, Haskins ME, Schuchman EH,. Articular chondrocytes from animals with a 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, 2001; 81: 1319-1328.
35. ® (laronidase) [prescribing information]. [Abstract].
36. ® (idursulfase) [prescribing information]. [Abstract].
37. ® (galsulfase) [prescribing information]. [Abstract].
38. Kakkis ED,. Enzyme replacement therapy for the mucopolysaccharide storage disorders. Expert Opin Investig Drugs, 2002; 11: 675-685.
39. Ohashi T,. Enzyme replacement therapy for lysosomal storage diseases. Pediatr Endocrinol Rev, 2012; 10 (Suppl 1): 26-34.
40. 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, 2007; 90: 171-180.
41. 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, 2006; 8: 465-473.
42. Rohrbach M, Clarke JT,. Treatment of lysosomal storage disorders: progress with enzyme replacement therapy. Drugs, 2007; 67: 2697-2716.
43. 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 alpha-L-iduronidase (laronidase). J Pediatr, 2004; 144: 581-588.
44. Clarke LA, Wraith JE, Beck M, et al,. Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics, 2009; 123: 229-240.
45. 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 alpha-L-iduronidase (laronidase). Pediatrics, 2007; 120: e37-e46.
46. 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, 2006; 29: 762.
47. Jurecka A, Marucha J, Jurkiewicz E, Rozdzynska-Swiatkowska A, Tylki-Szymanska A,. Enzyme replacement therapy in an attenuated case of mucopolysaccharidosis type I (Scheie syndrome): a 6.5-year detailed follow-up. Pediatr Neurol, 2012; 47: 461-465.
48. Braunlin EA, Berry JM, Whitley CB,. Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I. Am J Cardiol, 2006; 98: 416-418.
49. Australian Government Department of Health and Ageing. Guidelines for the treatment of Mucopolysaccharidosis Type I (MPS I) disease through the Life Saving Drugs Program, 2013. Available at: http://www.health.gov.au/internet/ main/publishing.nsf/Content/lsdp-info/#Laronidase (accessed 30 August 2013).
50. de Ru MH, Boelens JJ, Das AM, et al,. Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet J Rare Dis, 2011; 6: 55.
51. Muenzer J, Wraith JE, Clarke LA,. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics, 2009; 123: 19-29.
52. Muenzer J, Beck M, Eng CM, et al,. Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. Genet Med, 2011; 13: 95-101.
53. Muenzer J, Beck M, Giugliani R, et al,. Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey. Genet Med, 2011; 13: 102-109.
54. Papadia F, Lozupone MS, Gaeta A, Capodiferro D, Lacalendola G,. Long-term enzyme replacement therapy in a severe case of mucopolysaccharidosis type II (Hunter syndrome). Eur Rev Med Pharmacol Sci, 2011; 15: 253-258.
55. Australian Government Department of Health and Ageing. Guidelines for the treatment of Mucopolysaccharidosis Type II (MPS II) disease through the Life Saving Drugs Program, 2012. Available at: http://www.health.gov.au/internet/ main/publishing.nsf/Content/lsdp-info/#Idursulfase (accessed 2 September 2013).
56. Scarpa M, Almassy Z, Beck M, et al,. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis, 2011; 6: 72.
57. Australian Government Department of Health and Ageing. Guidelines for the treatment of Mucopolysaccharidosis Type VI (MPS VI) disease through the Life Saving Drugs Program, 2013. Available at: http://www.health.gov.au/internet/ main/publishing.nsf/Content/lsdp-info/#Galsulfase (accessed 5 September 2013).
58. Harmatz P, Whitley CB, Waber L, et al,. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr, 2004; 144: 574-580.
59. Harmatz P, Ketteridge D, Giugliani R, et al,. Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. Pediatrics, 2005; 115: e681-e689.
60. Harmatz P, Giugliani R, Schwartz I, et al,. 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, 2006; 148: 533-539.
61. Harmatz P, Giugliani R, Schwartz IV, et al,. 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, 2008; 94: 469-475.
62. Harmatz P, Yu ZF, Giugliani R, et al,. Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Inherit Metab Dis, 2010; 33: 51-60.
63. 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, 2003; 31: 1105-1117.
64. Guffon N, Souillet G, Maire I, Straczek J, Guibaud P,. Follow-up of nine patients with Hurler syndrome after bone marrow transplantation. J Pediatr, 1998; 133: 119-125.
65. Krivit W, Pierpont ME, Ayaz K, et al,. Bone-marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Biochemical and clinical status 24 months after transplantation. N Engl J Med, 1984; 311: 1606-1611.
66. Prasad VK, Kurtzberg J,. Transplant outcomes in mucopolysaccharidoses. Semin Hematol, 2010; 47: 59-69.
67. Peters C, Shapiro EG, Anderson J, et al,. Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group. Blood, 1998; 91: 2601-2608.
68. Peters C, Balthazor M, Shapiro EG, et al,. Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood, 1996; 87: 4894-4902.
69. Whitley CB, Belani KG, Chang PN, et al,. Long-term outcome of Hurler syndrome following bone marrow transplantation. Am J Med Genet, 1993; 46: 209-218.
70. Coppa GV, Gabrielli O, Zampini L, et al,. Bone marrow transplantation in Hunter syndrome. J Inherit Metab Dis, 1995; 18: 91-92.
71. Guffon N, Bertrand Y, Forest I, Fouilhoux A, Froissart R,. Bone marrow transplantation in children with Hunter syndrome: outcome after 7 to 17 years. J Pediatr, 2009; 154: 733-737.
72. McKinnis EJ, Sulzbacher S, Rutledge JC, Sanders J, Scott CR,. Bone marrow transplantation in Hunter syndrome. J Pediatr, 1996; 129: 145-148.
73. Prasad VK, Mendizabal A, Parikh SH, et al,. Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: influence of cellular composition of the graft on transplantation outcomes. Blood, 2008; 112: 2979-2989.
74. Grewal SS, Wynn R, Abdenur JE, et al,. Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome. Genet Med, 2005; 7: 143-146.
75. Tolar J, Grewal SS, Bjoraker KJ, Whitley CB, Shapiro EG, Charnas L, Orchard PJ,. Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome. Bone Marrow Transplant, 2008; 41: 531-535.
76. Wynn RF, Mercer J, Page J, Carr TF, Jones S, Wraith JE,. Use of enzyme replacement therapy (Laronidase) before hematopoietic stem cell transplantation for mucopolysaccharidosis I: experience in 18 patients. J Pediatr, 2009; 154: 135-139.
77. Valayannopoulos V, Wijburg FA,. Therapy for the mucopolysaccharidoses. Rheumatology (Oxford), 2011; 50 (Suppl 5): v49-v59.
78. White KK,. Orthopaedic aspects of mucopolysaccharidoses. Rheumatology (Oxford), 2011; 50 (Suppl 5): v26-v33.
79. Polito VA, Abbondante S, Polishchuk RS, Nusco E, Salvia R, Cosma MP,. Correction of CNS defects in the MPSII mouse model via systemic enzyme replacement therapy. Hum Mol Genet, 2010; 19: 4871-4885.
80. 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 USA, 2005; 102: 14777-14782.
81. Rozaklis T, Beard H, Hassiotis S, et al,. Impact of high-dose, chemically modified sulfamidase on pathology in a murine model of MPS IIIA. Exp Neurol, 2011; 230: 123-130.
82. 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, 2004; 83: 163-174.
83. Savas PS, Hemsley KM, Hopwood JJ,. Intracerebral injection of sulfamidase delays neuropathology in murine MPS-IIIA. Mol Genet Metab, 2004; 82: 273-285.
84. Auclair D, Finnie J, Walkley SU, et al,. Intrathecal recombinant human 4-sulfatase reduces accumulation of glycosaminoglycans in dura of mucopolysaccharidosis VI cats. Pediatr Res, 2012; 71: 39-45.
85. Calias P, Papisov M, Pan J, et al,. CNS penetration of intrathecal-lumbar idursulfase in the monkey, dog and mouse: implications for neurological outcomes of lysosomal storage disorder. PLoS ONE, 2012; 7: e30341.
86. Boado RJ, Hui EK, Lu JZ, Zhou QH, Pardridge WM,. Reversal of lysosomal storage in brain of adult MPS-I mice with intravenous Trojan horse-iduronidase fusion protein. Mol Pharm, 2011; 8: 1342-1350.
87. Tomatsu S, Montano AM, Dung VC, et al,. Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome. Mol Ther, 2010; 18: 1094-1102.
88. LeBowitz JH, Grubb JH, Maga JA, Schmiel DH, Vogler C, Sly WS,. Glycosylation-independent targeting enhances enzyme delivery to lysosomes and decreases storage in mucopolysaccharidosis type VII mice. Proc Natl Acad Sci USA, 2004; 101: 3083-3088.
89. Roberts AL, Thomas BJ, Wilkinson AS, Fletcher JM, Byers S,. Inhibition of glycosaminoglycan synthesis using rhodamine B in a mouse model of mucopolysaccharidosis type IIIA. Pediatr Res, 2006; 60: 309-314.
90. Roberts AL, Rees MH, Klebe S, Fletcher JM, Byers S,. Improvement in behaviour after substrate deprivation therapy with rhodamine B in a mouse model of MPS IIIA. Mol Genet Metab, 2007; 92: 115-121.
91. Jakobkiewicz-Banecka J, Piotrowska E, Gabig-Ciminska M, et al,. Substrate reduction therapies for mucopolysaccharidoses. Curr Pharm Biotechnol, 2011; 12: 1860-1865.
92. Jakobkiewicz-Banecka J, Piotrowska E, Narajczyk M, Baranska S, Wegrzyn G,. Genistein-mediated inhibition of glycosaminoglycan synthesis, which corrects storage in cells of patients suffering from mucopolysaccharidoses, acts by influencing an epidermal growth factor-dependent pathway. J Biomed Sci, 2009; 16: 26.
93. Friso A, Tomanin R, Salvalaio M, Scarpa M,. Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II. Br J Pharmacol, 2010; 159: 1082-1091.
94. Malinowska M, Wilkinson FL, Bennett W, et al,. Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice. Mol Genet Metab, 2009; 98: 235-242.
95. Malinowska M, Wilkinson FL, Langford-Smith KJ, et al,. Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease. PLoS ONE, 2010; 5: e14192.
96. Marucha J, Tylki-Szymanska A, Jakobkiewicz-Banecka J, Piotrowska E, Kloska A, Czartoryska B, Wegrzyn G, Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression-targeted isoflavone therapy (GET IT). Am J Med Genet A, 2011; 155a: 2257-2262.
97. Piotrowska E, Jakóbkiewicz-Banecka J, Tylki-Szymanska A, et al,. Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: an open-label, pilot study in 10 pediatric patients. Current therapeutic research, clinical and experimental, 2008; 69: 166-179.
98. Piotrowska E, Jakobkiewicz-Banecka J, Maryniak A, et al,. Two-year follow-up of Sanfilippo Disease patients treated with a genistein-rich isoflavone extract: assessment of effects on cognitive functions and general status of patients. Med Sci Monit, 2011; 17: Cr196-Cr202.
99. ® (miglustat) [prescribing information]. [Abstract].
100. Patterson MC, Vecchio D, Prady H, Abel L, Wraith JE,. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol, 2007; 6: 765-772.
101. Cox TM, Aerts JM, Andria G, et al,. The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement. J Inherit Metab Dis, 2003; 26: 513-526.
102. Guffon N, Bin-Dorel S, Decullier E, Paillet C, Guitton J, Fouilhoux A,. Evaluation of miglustat treatment in patients with type III mucopolysaccharidosis: a randomized, double-blind, placebo-controlled study. J Pediatr, 2011; 159 (838-844): e831.
103. Skorupa AF, Fisher KJ, Wilson JM, Parente MK, Wolfe JH,. Sustained production of beta-glucuronidase from localized sites after AAV vector gene transfer results in widespread distribution of enzyme and reversal of lysosomal storage lesions in a large volume of brain in mucopolysaccharidosis VII mice. Exp Neurol, 1999; 160: 17-27.
104. Richard M, Arfi A, Seguin J, Gandolphe C, Scherman D,. Widespread biochemical correction of murine mucopolysaccharidosis type VII pathology by liver hydrodynamic plasmid delivery. Gene Ther, 2009; 16: 746-756.
105. Cressant A, Desmaris N, Verot L, et al,. Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatum. J Neurosci, 2004; 24: 10229-10239.
106. Liu G, Martins I, Wemmie JA, Chiorini JA, Davidson BL,. Functional correction of CNS phenotypes in a lysosomal storage disease model using adeno-associated virus type 4 vectors. J Neurosci, 2005; 25: 9321-9327.
107. Frisella WA, O'Connor LH, Vogler CA, et al,. Intracranial injection of recombinant adeno-associated virus improves cognitive function in a murine model of mucopolysaccharidosis type VII. Mol Ther, 2001; 3: 351-358.
108. Ruzo A, Marco S, Garcia M, et al,. Correction of pathological accumulation of glycosaminoglycans in central nervous system and peripheral tissues of MPSIIIA mice through systemic AAV9 gene transfer. Hum Gene Ther, 2012; 23: 1237-1246.
109. Fu H, Dirosario J, Killedar S, Zaraspe K, McCarty DM,. Correction of neurological disease of mucopolysaccharidosis IIIB in adult mice by rAAV9 trans-blood-brain barrier gene delivery. Mol Ther, 2011; 19: 1025-1033.
110. McCarty DM, DiRosario J, Gulaid K, Muenzer J, Fu H,. Mannitol-facilitated CNS entry of rAAV2 vector significantly delayed the neurological disease progression in MPS IIIB mice. Gene Ther, 2009; 16: 1340-1352.
111. Ponder KP, Haskins ME,. Gene therapy for mucopolysaccharidosis. Expert Opin Biol Ther, 2007; 7: 1333-1345.
112. Hendriksz C, Burton BK, Fleming T, et al,. A multi-national, randomized, double-blind, placebo-controlled study to evaluate the efficacy and safety of BMN 110 treatment for mucopolysaccharidosis IVA (Morquio syndrome type A). Mol Genet Metab, 2013; 108: S48.
113. GenomeNet. Kyoto University Bioinformatics Center, Kyoto, Japan. Available at: http://www.genome.jp/kegg/ (accessed 1 December 2013).
114. Nelson J,. Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet, 1997; 101: 355-358.
115. 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, 2008; 3: 24.
116. Applegarth DA, Toone JR, Lowry RB,. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics, 2000; 105: e10.
117. Baehner F, Schmiedeskamp C, Krummenauer F, et al,. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis, 2005; 28: 1011-1017.
118. Lowry RB, Applegarth DA, Toone JR, MacDonald E, Thunem NY,. An update on the frequency of mucopolysaccharide syndromes in British Columbia. Hum Genet, 1990; 85: 389-390.