Emerging drugs for the treatment of mucopolysaccharidoses

References

• Neufeld E, Muenzer J The mucopolysaccharidosis. In: Scriver C, Beandet A, Sly S, et al., editors. The metabolic and molecular basis of inherited disease. New York (NY): McGraw-Hill; 2001. p. 3421–3452.
   Google Scholar
• Morquio L. Sur une forme de dystrophie osseuse familiale. Archives de médecine des infants. 1929;32:129–135.
   Google Scholar
• Brailsford J. Chondro-osteo-dystrophy. Roentgenopgraphic & clinical features of a chil with dislocation of vertebrae. Am J Surg. 1929;7:404–410.
   Google Scholar
• Scheie HG, Hambrick GW Jr, Barness LA. A newly recognized forme fruste of Hurler’s disease (gargoylism). Am J Ophthalmol. 1962;53:753–769. PMID:14498144. Epub 1962 May 1. eng.
   PubMed Web of Science ®Google Scholar
• Sanfilippo S, Podosin R, Langer L Jr, et al. Mental retardation associated with acid mucpolysacchariduria (heparin sulfate type). J Pediat. 1963;63:837–838.
   Web of Science ®Google Scholar
• Maroteaux P, Leveque B, Marie J, et al. A new dysostosis with urinary elimination of chondroitin sulfate B. Presse Med. 1963;71:1849–1852. PMID:14091597. Epub 1963 Sep 25. Une nouvelle dysostose avec ‘elimination urinaire de chondroitine-sulfate b. fre.
   PubMed Web of Science ®Google Scholar
• Sly WS, Quinton BA, McAlister WH, et al. Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis. J Pediatr. 1973;82(2):249–257. PMID:4265197. Epub 1973 Feb 1. eng.
   PubMed Web of Science ®Google Scholar
• Natowicz MR, Short MP, Wang Y, et al. Clinical and biochemical manifestations of hyaluronidase deficiency. N Engl J Med. 1996;335(14):1029–1033. PMID:8793927. Epub 1996 Oct 3. eng.
   PubMed Web of Science ®Google Scholar
• Giugliani R, Federhen A, da Silva A, et al. Emerging treatment options for the mucopolysaccharidoses. Res Reports Endocr Disord. 2012;2:53–64.
   Google Scholar
• Hobbs JR. Bone marrow transplantation for inborn errors. Lancet. 1981;2(8249):735–739. PMID:6116868. eng.
   PubMed Web of Science ®Google Scholar
• Clarke LA, Wraith JE, Beck M, et al. Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics. 2009;123(1):229–240. PMID:19117887. eng.
   PubMed Web of Science ®Google Scholar
• 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(2):95–101. PMID:21150784. Epub 2010 Dec 15. eng.
   PubMed Web of Science ®Google Scholar
• 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(4):469–475. PMID:18502162. Epub 2008 May 27. eng.
   PubMed Web of Science ®Google Scholar
• Tanaka A, Okuyama T, Suzuki Y, et al. Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan. Mol Genet Metab. 2012;107(3):513–520. PMID:23022072. Epub 2012 Oct 2. eng.
   PubMed Web of Science ®Google Scholar
• Vellodi A, Young E, Cooper A, et al. Long-term follow-up following bone marrow transplantation for Hunter disease. J Inherit Metab Dis. 1999;22(5):638–648. PMID:10399096. Epub 1999 Jul 10. eng.
   PubMed Web of Science ®Google Scholar
• Poe MD, Chagnon SL, Escolar ML. Early treatment is associated with improved cognition in Hurler syndrome. Ann Neurol. 2014;76(5):747–753. PMID:25103575. Epub 2014 Aug 12. eng.
   PubMed Web of Science ®Google Scholar
• 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(5):581–588. PMID:15126990. Epub 2004 May 6. eng.
   PubMed Web of Science ®Google Scholar
• 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(8):465–473. PMID:16912578. Epub 2006 Aug 17. eng.
   PubMed Web of Science ®Google Scholar
• 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(4):533–539. PMID:16647419. Epub 2006 May 2. eng.
   PubMed Web of Science ®Google Scholar
• Hendriksz CJ, Burton B, Fleming TR, et al. Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study. J Inherit Metab Dis. 2014;37(6):979–990. PMID:24810369. PMCID: Pmc4206772. Epub 2014 May 9. eng.
   PubMed Web of Science ®Google Scholar
• Sohn YB, Cho SY, Park SW, et al. Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome). Orphanet J Rare Dis. 2013;8:42. PMID:23497636. PMCID: Pmc3614543. Epub 2013 Mar 19. eng.
   PubMed Web of Science ®Google Scholar
• Sohn YB, Cho SY, Lee J, et al. Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome). Orphanet J Rare Dis. 2013;8:42.
   PubMed Web of Science ®Google Scholar
• Fox JE, Volpe L, Bullaro J, et al. First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient. Mol Genet Metab. 2014;114(2):203–208. PMID:25468648. Epub 2014 Dec 4. Eng.
   PubMed Web of Science ®Google Scholar
• de Souza MV, Krug BC, Picon PD, et al. [High cost drugs for rare diseases in Brazil: the case of lysosomal storage disorders]. Cien Saude Colet. 2010;15(Suppl 3):3443–3454. PMID:21120332. Epub 2010 Dec 9. Medicamentos de alto custo para doencas raras no Brasil: o exemplo das doencas lisossomicas. por.
   PubMed Web of Science ®Google Scholar
• Pinto R, Caseiro C, Lemos M, et al. Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet. 2004;12(2):87–92. PMID:14685153. Epub 2003 Dec 20. eng.
   PubMed Web of Science ®Google Scholar
• Malm G, Lund AM, Mansson JE, et al. Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence. Acta Paediatr. 2008;97(11):1577–1581. PMID:18681890. Epub 2008 Aug 7. eng.
   PubMed Web of Science ®Google Scholar
• Dung VC, Tomatsu S, Montano AM, et al. Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels. Mol Genet Metab. 2013;110(1–2):129–138. PMID:23876334. PMCID:Pmc3779837. Epub 2013 Jul 24. eng.
   PubMed Web of Science ®Google Scholar
• Montaño AM, Tomatsu S, Gottesman GS, et al. International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis. 2007;30(2):165–174. PMID:17347914. eng.
   PubMed Web of Science ®Google Scholar
• Hendriksz C, Vellodi A, Jones S, et al. Long term outcomes of a phase 1/2, multicenter, open-label, dose-escalation study to evaluate the safety, tolerability, and efficacy of BMN 110 in patients with mucopolysaccharidosis IVA (Morquio A syndrome). Mol Genet Metab. 2012;105:S35.
   Web of Science ®Google Scholar
• Hendriksz CJ, Lavery C, Coker M, et al. Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey. Orphanet J Rare Dis. 2014;9:32. PMID:24602160. PMCID:Pmc4016149. Epub 2014 Mar 8. eng.
   PubMed Web of Science ®Google Scholar
• ClinicalTrials.gov [Internet]. 1997. Available from: https://clinicaltrials.gov/.
   Google Scholar
• Tomatsu S, Almeciga-Diaz CJ, Barbosa H, et al. Therapies of mucopolysaccharidosis IVA (Morquio A syndrome). Expert Opin Orphan Drugs. 2013;1(10):805–818. PMID:25419501. PMCID:Pmc4238063. Epub 2014 Nov 25. Eng.
   PubMed Web of Science ®Google Scholar
• O’Connor LH, Erway LC, Vogler CA, et al. Enzyme replacement therapy for murine mucopolysaccharidosis type VII leads to improvements in behavior and auditory function. J Clin Invest. 1998;101(7):1394–1400. PMID:9525982. PMCID:Pmc508717. Epub 1998 Apr 29. eng.
   PubMed Web of Science ®Google Scholar
• Huynh HT, Grubb JH, Vogler C, et al. Biochemical evidence for superior correction of neuronal storage by chemically modified enzyme in murine mucopolysaccharidosis VII. Proc Natl Acad Sci U S A. 2012;109(42):17022–17027. PMID:23027951. PMCID:Pmc3479451. Epub 2012 Oct 3. eng.
   PubMed Web of Science ®Google Scholar
• Vogler C, Sands M, Higgins A, et al. Enzyme replacement with recombinant beta-glucuronidase in the newborn mucopolysaccharidosis type VII mouse. Pediatr Res. 1993;34(6):837–840. PMID:8108204. Epub 1993 Dec 1. eng.
   PubMed Web of Science ®Google Scholar
• 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 U S A. 2005;102(41):14777–14782. PMID:16162667. PMCID:Pmc1253584. Epub 2005 Sep 16. eng.
   PubMed Web of Science ®Google Scholar
• Grubb JH, Vogler C, Levy B, et al. Chemically modified beta-glucuronidase crosses blood-brain barrier and clears neuronal storage in murine mucopolysaccharidosis VII. Proc Natl Acad Sci U S A. 2008;105(7):2616–2621. PMID:18268347. PMCID:Pmc2268185. Epub 2008 Feb 13. eng.
   PubMed Web of Science ®Google Scholar
• Vijay S, Wraith JE. Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I. Acta Paediatr. 2005;94(7):872–877. PMID:16188808. eng.
   PubMed Web of Science ®Google Scholar
• Dickson P, McEntee M, Vogler C, et al. Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid. Mol Genet Metab. 2007;91(1):61–68. PMID:17321776. PMCID:PMC3009387. eng.
   PubMed Web of Science ®Google Scholar
• 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 A. 2008;146a(19):2538–2544. PMID:18792977. Epub 2008 Sep 17. eng.
   PubMed Web of Science ®Google Scholar
• 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(1–2):163–174. PMID:15464431. eng.
   PubMed Web of Science ®Google Scholar
• Dickson PI, Ellinwood NM, Brown JR, et al. Specific antibody titer alters the effectiveness of intrathecal enzyme replacement therapy in canine mucopolysaccharidosis I. Mol Genet Metab. 2012;106(1):68–72. PMID:22402327. PMCID:PMC3336016. eng.
   PubMed Web of Science ®Google Scholar
• 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. 1983;25(4):481–489. PMID:6413286. Epub 1983 Aug 1. eng.
   PubMed Web of Science ®Google Scholar
• Sohn YB, Lee J, Cho SY, et al. Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice. Am J Med Genet A. 2013;161a(5):1036–1043. PMID:23529876. Epub 2013 Mar 27. eng.
   PubMed Web of Science ®Google Scholar
• Felice BR, Wright TL, Boyd RB, et al. Safety evaluation of chronic intrathecal administration of idursulfase-IT in cynomolgus monkeys. Toxicol Pathol. 2011;39(5):879–892. PMID:21628718. Epub 2011 Jun 2. eng.
   PubMed Web of Science ®Google Scholar
• 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(1):e30341. PMID:22279584. PMCID:Pmc3261205. Epub 2012 Jan 27. eng.
   PubMed Web of Science ®Google Scholar
• Hoving MA, van Raak EP, Spincemaille GH, et al. Safety and one-year efficacy of intrathecal baclofen therapy in children with intractable spastic cerebral palsy. Eur J Paediatr Neurol. 2009;13(3):247–256. PMID:18590974. Epub 2008 Jul 2. eng.
   PubMed Web of Science ®Google Scholar
• Valstar MJ, Ruijter GJ, van Diggelen OP, et al. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis. 2008;31(2):240–252. PMID:18392742. Epub 2008 Apr 9. eng.
   PubMed Web of Science ®Google Scholar
• Valstar MJ, Neijs S, Bruggenwirth HT, et al. Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. Ann Neurol. 2010;68(6):876–887. PMID:21061399. Epub 2010 Nov 10. eng.
   PubMed Web of Science ®Google Scholar
• de Ruijter J, Valstar MJ, Wijburg FA. Mucopolysaccharidosis type III (Sanfilippo Syndrome): emerging treatment strategies. Curr Pharm Biotechnol. 2011;12(6):923–930. PMID:21235449. Epub 2011 Jan 18. eng.
   PubMed Web of Science ®Google Scholar
• Kalkan Ucar S, Ozbaran B, Demiral N, et al. Clinical overview of children with mucopolysaccharidosis type III A and effect of Risperidone treatment on children and their mothers psychological status. Brain Dev. 2010;32(2):156–161. PMID:19217229. Epub 2009 Feb 17. eng.
   PubMed Web of Science ®Google Scholar
• Cleary MA, Wraith JE. Management of mucopolysaccharidosis type III. Arch Dis Child. 1993;69(3):403–406. PMID:8215557. PMCID:Pmc1029535. Epub 1993 Sep 1. eng.
   PubMed Web of Science ®Google Scholar
• Fraser J, Wraith JE, Delatycki MB. Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians. Clin Genet. 2002;62(5):418–421. PMID:12431260. Epub 2002 Nov 15. eng.
   PubMed Web of Science ®Google Scholar
• Fraser J, Gason AA, Wraith JE, et al. Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study. Arch Dis Child. 2005;90(12):1239–1242. PMID:16301549. PMCID:Pmc1720229. Epub 2005 Nov 23. eng.
   PubMed Web of Science ®Google Scholar
• Savas PS, Hemsley KM, Hopwood JJ. Intracerebral injection of sulfamidase delays neuropathology in murine MPS-IIIA. Mol Genet Metab. 2004;82(4):273–285. PMID:15308125. Epub 2004 Aug 17. eng.
   PubMed Web of Science ®Google Scholar
• Abbott NJ, Patabendige AA, Dolman DE, et al. Structure and function of the blood-brain barrier. Neurobiol Dis. 2010;37(1):13–25. PMID:19664713. Epub 2009 Aug 12. eng.
   PubMed Web of Science ®Google Scholar
• Begley DJ, Pontikis CC, Scarpa M. Lysosomal storage diseases and the blood-brain barrier. Curr Pharm Des. 2008;14(16):1566–1580. PMID:18673198. Epub 2008 Aug 5. eng.
   PubMed Web of Science ®Google Scholar
• Hemsley KM, King B, Hopwood JJ. Injection of recombinant human sulfamidase into the CSF via the cerebellomedullary cistern in MPS IIIA mice. Mol Genet Metab. 2007;90(3):313–328. PMID:17166757. Epub 2006 Dec 15. eng.
   PubMed Web of Science ®Google Scholar
• Hemsley KM, Beard H, King BM, et al. Effect of high dose, repeated intra-CSF injection of sulphamidase on neuropathology in MPS IIIA mice. Genes Brain Behav. 2008;7:740–753. PMID:18518922. Epub 2008 Jun 4. Eng.
   PubMed Web of Science ®Google Scholar
• Hemsley KM, Norman EJ, Crawley AC, et al. Effect of cisternal sulfamidase delivery in MPS IIIA Huntaway dogs–a proof of principle study. Mol Genet Metab. 2009;98(4):383–392. PMID:19699666. Epub 2009 Aug 25. eng.
   PubMed Web of Science ®Google Scholar
• Crawley AC, Marshall N, Beard H, et al. Enzyme replacement reduces neuropathology in MPS IIIA dogs. Neurobiol Dis. 2011;43(2):422–434. PMID:21550404. Epub 2011 May 10. eng.
   PubMed Web of Science ®Google Scholar
• Jolly RD, Marshall NR, Perrott MR, et al. Intracisternal enzyme replacement therapy in lysosomal storage diseases: routes of absorption into brain. Neuropathol Appl Neurobiol. 2011;37(4):414–422. PMID:21175738. Epub 2010 Dec 24. eng.
   PubMed Web of Science ®Google Scholar
• Jolly RD, Marshall NR, Marshall J, et al. Intracisternal enzyme replacement therapy in lysosomal storage diseases: dispersal pathways, regional enzyme concentrations and the effect of posttreatment posture. Neuropathol Appl Neurobiol. 2013;39(6):681–692. PMID:23252616. Epub 2012 Dec 21. eng.
   PubMed Web of Science ®Google Scholar
• King B, Marshall N, Beard H, et al. Evaluation of enzyme dose and dose-frequency in ameliorating substrate accumulation in MPS IIIA Huntaway dog brain. J Inherit Metab Dis. 2014;38(2):341–350. PMID:25421091. Epub 2014. Nov 26. Eng.
   PubMed Web of Science ®Google Scholar
• Kan SH, Troitskaya LA, Sinow CS, et al. Insulin-like growth factor II peptide fusion enables uptake and lysosomal delivery of alpha-N-acetylglucosaminidase to mucopolysaccharidosis type IIIB fibroblasts. Biochem J. 2014;458(2):281–289. PMID:24266751. Epub 2013 Nov 26. eng.
   PubMed Web of Science ®Google Scholar
• Morgan DO, Edman JC, Standring DN, et al. Insulin-like growth factor II receptor as a multifunctional binding protein. Nature. 1987;329(6137):301–307. PMID:2957598. Epub 1987 Sep 24. eng.
   PubMed Web of Science ®Google Scholar
• Kan SH, Aoyagi-Scharber M, Le SQ, et al. Delivery of an enzyme-IGFII fusion protein to the mouse brain is therapeutic for mucopolysaccharidosis type IIIB. Proc Natl Acad Sci U S A. 2014;111(41):14870–14875. PMID:25267636. PMCID:Pmc4205671. Epub 2014 Oct 1. eng.
   PubMed Web of Science ®Google Scholar
• Rossomando A, Chen L, Ciatto C, et al. SBC-103, a recombinat human alpha-N-acetylglucosaminidase, demonstrates mannose-6-phosphate receptor dependent transport in an in vitro blood-brain barrier model. Mol Genet Metab. 2013;111:S91.
   Google Scholar
• Rutkowski J, Harbert K, Xu H, et al. Intravenous SBC-103, a recombinant human alpha-N-acetylglucosaminidase reduces CNS heparin sufate content in a mucopolysaccharidosis type IIIB mouse model. Mol Genet Metab. 2013;111:S92.
   Google Scholar
• Boado RJ, Hui EK, Lu JZ, et al. Glycemic control and chronic dosing of rhesus monkeys with a fusion protein of iduronidase and a monoclonal antibody against the human insulin receptor. Drug Metab Dispos. 2012;40(10):2021–2025. PMID:22822036. PMCID:PMC3463822. eng.
   PubMed Web of Science ®Google Scholar
• Boado RJ, Zhang Y, Xia CF, et al. Genetic engineering of a lysosomal enzyme fusion protein for targeted delivery across the human blood-brain barrier. Biotechnol Bioeng. 2008;99(2):475–484. PMID:17680664. eng.
   PubMed Web of Science ®Google Scholar
• Boado RJ, Ka-Wai Hui E, Zhiqiang Lu J, et al. Insulin receptor antibody-iduronate 2-sulfatase fusion protein: pharmacokinetics, anti-drug antibody, and safety pharmacology in Rhesus monkeys. Biotechnol Bioeng. 2014;111(11):2317–2325. PMID:24889100. PMCID:Pmc4176522. Epub 2014 Jun 4. eng.
   PubMed Web of Science ®Google Scholar
• 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(12):e14192. PMID:21152017. PMCID:Pmc2995736. Epub 2010 Dec 15. eng.
   PubMed Web of Science ®Google Scholar
• 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(4):Cr196–202. PMID:21455105. PMCID:Pmc3539518. Epub 2011 Apr 2. eng.
   PubMed Web of Science ®Google Scholar
• Delgadillo V, O’Callaghan Mdel M, Artuch R, et al. Genistein supplementation in patients affected by Sanfilippo disease. J Inherit Metab Dis. 2011;34(5):1039–1044. PMID:21556833. Epub 2011 May 11. eng.
   PubMed Web of Science ®Google Scholar
• de Ruijter J, Valstar MJ, Narajczyk M, et al. Genistein in Sanfilippo disease: a randomized controlled crossover trial. Ann Neurol. 2012;71(1):110–120. PMID:22275257. Epub 2012 Jan 26. eng.
   PubMed Web of Science ®Google Scholar
• Kim KH, Dodsworth C, Paras A, et al. High dose genistein aglycone therapy is safe in patients with mucopolysaccharidoses involving the central nervous system. Mol Genet Metab. 2013;109(4):382–385. PMID:23845234. Epub 2013 Jul 13. eng.
   PubMed Web of Science ®Google Scholar
• Banecka-Majkutewicz Z, Jakobkiewicz-Banecka J, Gabig-Ciminska M, et al. Putative biological mechanisms of efficiency of substrate reduction therapies for mucopolysaccharidoses. Arch Immunol Ther Exp (Warsz). 2012;60(6):461–468. PMID:22949095. Epub 2012 Sep 6. eng.
   PubMed Web of Science ®Google Scholar
• Noh H, Lee JI. Current and potential therapeutic strategies for mucopolysaccharidoses. J Clin Pharm Ther. 2014;39(3):215–224. PMID:24612142. Epub 2014 Mar 13. eng.
   PubMed Web of Science ®Google Scholar
• Roberts AL, Rees MH, Klebe S, et al. Improvement in behaviour after substrate deprivation therapy with rhodamine B in a mouse model of MPS IIIA. Mol Genet Metab. 2007;92(1–2):115–121. PMID:17681480. Epub 2007 Aug 8. eng.
   PubMed Web of Science ®Google Scholar
• Roberts AL, Thomas BJ, Wilkinson AS, et al. Inhibition of glycosaminoglycan synthesis using rhodamine B in a mouse model of mucopolysaccharidosis type IIIA. Pediatr Res. 2006;60(3):309–314. PMID:16857766. Epub 2006 Jul 22. eng.
   PubMed Web of Science ®Google Scholar
• Lamanna WC, Lawrence R, Sarrazin S, et al. A genetic model of substrate reduction therapy for mucopolysaccharidosis. J Biol Chem. 2012;287(43):36283–36290. PMID:22952226. PMCID:Pmc3476295. Epub 2012 Sep 7. eng.
   PubMed Web of Science ®Google Scholar
• Baldo G, Giugliani R, Matte U. Gene delivery strategies for the treatment of mucopolysaccharidoses. Expert Opin Drug Deliv. 2014;11(3):449–459. PMID:24450877. eng.
   PubMed Web of Science ®Google Scholar
• Baldo G, Wu S, Howe RA, et al. Pathogenesis of aortic dilatation in mucopolysaccharidosis VII mice may involve complement activation. Mol Genet Metab. 2011;104(4):608–619. PMID:21944884. PMCID:Pmc3283036. Epub 2011 Sep 29. eng.
   PubMed Web of Science ®Google Scholar
• Tessitore A, Faella A, O’Malley T, et al. Biochemical, pathological, and skeletal improvement of mucopolysaccharidosis VI after gene transfer to liver but not to muscle. Mol Ther. 2008;16(1):30–37. PMID:17955027. Epub 2007 Oct 24. eng.
   PubMed Web of Science ®Google Scholar
• Lau AA, Rozaklis T, Ibanes S, et al. Helper-dependent canine adenovirus vector-mediated transgene expression in a neurodegenerative lysosomal storage disorder. Gene. 2012;491(1):53–57. PMID:21963444. Epub 2011 Oct 4. eng.
   PubMed Web of Science ®Google Scholar
• Fraldi A, Hemsley K, Crawley A, et al. Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes. Hum Mol Genet. 2007;16(22):2693–2702. PMID:17725987. Epub 2007 Aug 30. eng.
   PubMed Web of Science ®Google Scholar
• 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(2):251–259. PMID:21139569. PMCID:Pmc3034858. Epub 2010 Dec 9. eng.
   PubMed Web of Science ®Google Scholar
• Jung SC, Park ES, Choi EN, et al. Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV2/8 vector-mediated gene therapy. Mol Cells. 2010;30(1):13–18. PMID:20652491. Epub 2010 Jul 24. eng.
   PubMed Web of Science ®Google Scholar
• Ferla R, O’Malley T, Calcedo R, et al. Gene therapy for mucopolysaccharidosis type VI is effective in cats without pre-existing immunity to AAV8. Hum Gene Ther. 2013;24(2):163–169. PMID:23194248. PMCID:Pmc3581049. Epub 2012 Dec 1. eng.
   PubMed Web of Science ®Google Scholar
• Fu H, Dirosario J, Killedar S, et al. Correction of neurological disease of mucopolysaccharidosis IIIB in adult mice by rAAV9 trans-blood-brain barrier gene delivery. Mol Ther. 2011;19(6):1025–1033. PMID:21386820. PMCID:Pmc3129800. Epub 2011 Mar 10. eng.
   PubMed Web of Science ®Google Scholar
• Chen YH, Claflin K, Geoghegan JC, et al. Sialic acid deposition impairs the utility of AAV9, but not peptide-modified AAVs for brain gene therapy in a mouse model of lysosomal storage disease. Mol Ther. 2012;20(7):1393–1399. PMID:22588273. PMCID:Pmc3392983. Epub 2012 May 17. eng.
   PubMed Web of Science ®Google Scholar
• Haurigot V, Marco S, Ribera A, et al. Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy. J Clin Invest. 2013;123:3254–3254. PMID:23863627. PMCID:Pmc3726158. Epub 2013 Jul 19. Eng.
   PubMed Web of Science ®Google Scholar
• Baldo G, Wozniak DF, Ohlemiller KK, et al. Retroviral-vector-mediated gene therapy to mucopolysaccharidosis I mice improves sensorimotor impairments and other behavioral deficits. J Inherit Metab Dis. 2013;36(3):499–512. PMID:22983812. PMCID:PMC3548941. eng.
   PubMed Web of Science ®Google Scholar
• Traas AM, Wang P, Ma X, et al. Correction of clinical manifestations of canine mucopolysaccharidosis I with neonatal retroviral vector gene therapy. Mol Ther. 2007;15(8):1423–1431. PMID:17519893. eng.
   PubMed Web of Science ®Google Scholar
• Ponder KP, O’Malley TM, Wang P, et al. Neonatal gene therapy with a gamma retroviral vector in mucopolysaccharidosis VI cats. Mol Ther. 2012;20(5):898–907. PMID:22395531. PMCID:Pmc3345988. Epub 2012 Mar 8. eng.
   PubMed Web of Science ®Google Scholar
• Di Domenico C, Villani GR, Di Napoli D, et al. Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB. Am J Med Genet A. 2009;149a(6):1209–1218. PMID:19449420. Epub 2009 May 19. eng.
   PubMed Web of Science ®Google Scholar
• McIntyre C, Derrick Roberts AL, Ranieri E, et al. Lentiviral-mediated gene therapy for murine mucopolysaccharidosis type IIIA. Mol Genet Metab. 2008;93(4):411–418. PMID:18248829. Epub 2008 Feb 6. eng.
   PubMed Web of Science ®Google Scholar
• Aronovich EL, Bell JB, Khan SA, et al. Systemic correction of storage disease in MPS I NOD/SCID mice using the sleeping beauty transposon system. Mol Ther. 2009;17(7):1136–1144. PMID:19384290. PMCID:PMC2835207. eng.
   PubMed Web of Science ®Google Scholar
• Osborn MJ, McElmurry RT, Lees CJ, et al. Minicircle DNA-based gene therapy coupled with immune modulation permits long-term expression of alpha-L-iduronidase in mice with mucopolysaccharidosis type I. Mol Ther. 2011;19(3):450–460. PMID:21081900. PMCID:Pmc3048178. Epub 2010 Nov 18. eng.
   PubMed Web of Science ®Google Scholar
• Baldo G, Mayer FQ, Martinelli B, et al. Intraperitoneal implant of recombinant encapsulated cells overexpressing alpha-L-iduronidase partially corrects visceral pathology in mucopolysaccharidosis type I mice. Cytotherapy. 2012;14(7):860–867. PMID:22472038. eng.
   PubMed Web of Science ®Google Scholar
• de Carvalho T, Matte U, Giugliani R, et al. Genone editing: potential treatment for lysosomal storage diseases. Curr Stem Cell Rep. 2015;1:9–15.
   Google Scholar
• Di Domenico C, Villani GR, Di Napoli D, et al. Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector. Hum Gene Ther. 2005;16(1):81–90. PMID:15703491. eng.
   PubMed Web of Science ®Google Scholar
• Ma X, Liu Y, Tittiger M, et al. Improvements in mucopolysaccharidosis I mice after adult retroviral vector-mediated gene therapy with immunomodulation. Mol Ther. 2007;15(5):889–902. PMID:17311010. eng.
   PubMed Web of Science ®Google Scholar
• Gao C, Sands MS, Haskins ME, et al. Delivery of a retroviral vector expressing human beta-glucuronidase to the liver and spleen decreases lysosomal storage in mucopolysaccharidosis VII mice. Mol Ther. 2000;2(3):233–244. PMID:10985954. Epub 2000 Sep 14. eng.
   PubMed Web of Science ®Google Scholar
• 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(1–2):161–172. PMID:22902520. PMCID:Pmc3444660. Epub 2012 Aug 21. eng.
   PubMed Web of Science ®Google Scholar
• Frohbergh M, Ge Y, Meng F, et al. Dose responsive effects of subcutaneous pentosan polysulfate injection in mucopolysaccharidosis type VI rats and comparison to oral treatment. PLoS One. 2014;9(6):e100882. PMID:24964042. PMCID:Pmc4071040. Epub 2014 Jun 26. eng.
   PubMed Web of Science ®Google Scholar
• Schuchman EH, Ge Y, Lai A, et al. Pentosan polysulfate: a novel therapy for the mucopolysaccharidoses. PLoS One. 2013;8(1):e54459. PMID:23365668. PMCID:Pmc3554761. Epub 2013 Feb 1. eng.
   PubMed Web of Science ®Google Scholar
• Simonaro CM, Ge Y, Eliyahu E, et al. Involvement of the Toll-like receptor 4 pathway and use of TNF-alpha antagonists for treatment of the mucopolysaccharidoses. Proc Natl Acad Sci U S A. 2010;107(1):222–227. PMID:20018674. PMCID:Pmc2806747. Epub 2009 Dec 19. eng.
   PubMed Web of Science ®Google Scholar
• Mayer FQ, Artigalás OA, Lagranha VL, et al. Chloramphenicol enhances IDUA activity on fibroblasts from mucopolysaccharidosis I patients. Curr Pharm Biotechnol. 2013;14(2):194–198. PMID:23167761. eng.
   PubMed Web of Science ®Google Scholar
• Kamei M, Kasperski K, Fuller M, et al. Aminoglycoside-induced premature stop codon read-through of mucopolysaccharidosis type I patient Q70X and W402X mutations in cultured cells. JIMD Rep. 2014;13:139–147. PMID:24193436. PMCID:Pmc4110339. Epub 2013 Nov 7. eng.
   PubMedGoogle Scholar
• Francois B, Russell RJ, Murray JB, et al. Crystal structures of complexes between aminoglycosides and decoding A site oligonucleotides: role of the number of rings and positive charges in the specific binding leading to miscoding. Nucleic Acids Res. 2005;33(17):5677–5690. PMID:16214802. PMCID:Pmc1251667. Epub 2005 Oct 11. eng.
   PubMed Web of Science ®Google Scholar
• Floquet C, Deforges J, Rousset JP, et al. Rescue of non-sense mutated p53 tumor suppressor gene by aminoglycosides. Nucleic Acids Res. 2011;39(8):3350–3362. PMID:21149266. PMCID:Pmc3082906. Epub 2010 Dec 15. eng.
   PubMed Web of Science ®Google Scholar
• Hein LK, Bawden M, Muller VJ, et al. alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. J Mol Biol. 2004;338(3):453–462. PMID:15081804. Epub 2004 Apr 15. eng.
   PubMed Web of Science ®Google Scholar
• Keeling KM, Wang D, Dai Y, et al. Attenuation of nonsense-mediated mRNA decay enhances in vivo nonsense suppression. PLoS One. 2013;8(4):e60478. PMID:23593225. PMCID:PMC3622682. eng.
   PubMed Web of Science ®Google Scholar
• Bartolomeo R, Polishchuk EV, Volpi N, et al. Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI. J Inherit Metab Dis. 2013;36(2):363–371. PMID:22971959. PMCID:Pmc3590409. Epub 2012 Sep 14. eng.
   PubMed Web of Science ®Google Scholar
• Muhlstein A, Gelperina S, Kreuter J. Development of nanoparticle-bound arylsulfatase B for enzyme replacement therapy of mucopolysaccharidosis VI. Pharmazie. 2013;68(7):549–554. PMID:23923636. Epub 2013 Aug 9. eng.
   PubMed Web of Science ®Google Scholar
• Mayer FQ, Adorne MD, Bender EA, et al. Laronidase-functionalized multiple-wall lipid-core nanocapsules: promising formulation for a more effective treatment of mucopolysaccharidosis type I. Pharm Res. 2014;32:941–954. PMID:25208876. Epub 2014 Sep 12. Eng.
   PubMed Web of Science ®Google Scholar
• Matte U, Lagranha VL, de Carvalho TG, et al. Cell microencapsulation: a potential tool for the treatment of neuronopathic lysosomal storage diseases. J Inherit Metab Dis. 2011;34(5):983–990. PMID:21614584. Epub 2011 May 27. eng.
   PubMed Web of Science ®Google Scholar
• Naganawa Y, Ohsugi K, Kase R, et al. In vitro study of encapsulation therapy for Fabry disease using genetically engineered CHO cell line. Cell Transplant. 2002;11(4):325–329. PMID:12162373. Epub 2002 Aug 7. eng
   PubMed Web of Science ®Google Scholar
• Consiglio A, Martino S, Dolcetta D, et al. Metabolic correction in oligodendrocytes derived from metachromatic leukodystrophy mouse model by using encapsulated recombinant myoblasts. J Neurol Sci. 2007;255(1–2):7–16. PMID:17341424. Epub 2007 Mar 8. eng.
   PubMed Web of Science ®Google Scholar
• Lagranha VL, Baldo G, de Carvalho TG, et al. In vitro correction of ARSA deficiency in human skin fibroblasts from metachromatic leukodystrophy patients after treatment with microencapsulated recombinant cells. Metab Brain Dis. 2008;23(4):469–484. PMID:18797988. Epub 2008 Sep 18. eng.
   PubMed Web of Science ®Google Scholar
• Ross CJ, Bastedo L, Maier SA, et al. Treatment of a lysosomal storage disease, mucopolysaccharidosis VII, with microencapsulated recombinant cells. Hum Gene Ther. 2000;11(15):2117–2127. PMID:11044913. Epub 2000 Oct 25. eng.
   PubMed Web of Science ®Google Scholar
• 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. 2005;7(11):1482–1491. PMID:15966019. Epub 2005 Jun 21. eng.
   PubMed Web of Science ®Google Scholar
• Lagranha VL, De Carvalho TG, Giugliani R, et al. Treatment of MPS I mice with microencapsulated cells overexpressing IDUA: effect of the prednisolone administration. J Microencapsul. 2013;30(4):383–389. PMID:23418953. eng.
   PubMed Web of Science ®Google Scholar