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Review

Current therapies for Morquio A syndrome and their clinical outcomes

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Pages 941-951 | Received 02 Apr 2016, Accepted 15 Jul 2016, Published online: 28 Jul 2016

References

  • Neufeld E, Muenzer J. The mucopolysaccharidoses. In: Scriver C, Beaudet A, Sly W, et al., editors. The metabolic and molecular bases of inherited disease. New York, NY: McGraw-Hill; 2001. p. 3421–3452.
  • Tomatsu S, Orii KO, Vogler C, et al. Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease. Hum Mol Genet. 2003;12:3349–3358.
  • Tomatsu S, Gutierrez M, Nishioka T, et al. Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase. Hum Mol Genet. 2005;14:3321–3335.
  • Tomatsu S, Vogler C, Montaño AM, et al. Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins. Mol Genet Metab. 2007;91:251–258.
  • Nelson J. Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet. 1997;101:355–358.
  • Nelson J, Crowhurst J, Carey B, et al. Incidence of the mucopolysaccharidoses in Western Australia. Hum Genet. 2003;123A:310–313.
  • 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;30:165–174.
  • Tomatsu S, Montaño AM, Oikawa H, et al. Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment. Curr Pharm Biotechnol. 2011;12:931–945.
  • Tomatsu S, Mackenzie WG, Theroux MC, et al. Current and emerging treatments and surgical interventions for Morquio A syndrome: a review. Res Rep Endocr Disord. 2012;2:65–77.
  • Tomatsu S, Averill LW, Sawamoto K, et al. Obstructive airway in Morquio A syndrome, the past, the present and the future. Mol Genet Metab. 2016;117(2):150–156.
  • Hendriksz CJ, Harmatz P, Beck M, et al. Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA. Mol Genet Metab. 2013;110:54–64.
  • Tomatsu S, Yasuda E, Patel P, et al. Morquio A syndrome: diagnosis and current and future therapies. Pediatr Endocrinol Rev. 2014;12(Suppl 1):141–151.
  • Hendriksz CJ, Al-Jawad M, Berger KI, et al. Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA. J Inherit Metab Dis. 2013;36:309–322.
  • FDA Advisory Committee Briefing Document. Elosulfase alfa for Mucopolysaccharidosis Type IVA. 2016. [cited 2016 Mar]. Available from: http://www.fda.gov/downloads/advisorycommittees/committeesmeetingmaterials/drugs/endocrinologicandmetabolicdrugsadvisorycommittee/ucm375126.pdf
  • 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;37:979–990.
  • Tomatsu S, Sawamoto K, Alméciga-Díaz CJ, et al. Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome. Drug Des Develop Ther. 2015;9:1937–1953.
  • Tomatsu S, Sawamoto K, Shimada T, et al. Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations. Expert Opin Orphan Drug. 2015;3:1–12.
  • Chinen Y, Higa T, Tomatsu S, et al. Long-term therapeutic efficacy of allogenic bone marrow transplantation in a patient with mucopolysaccharidosis IVA. Mol Genet Metab Rep. 2014;1:31–41.
  • Yabe H, Tanaka A, Chinen Y, et al. hematopoietic stem cell transplantation for Morquio A syndrome. Mol Genet Metab. 2016;117:84–94.
  • Tomatsu S, Azario I, Sawamoto K, et al. Neonatal cellular and gene therapies for mucopolysaccharidoses: the earlier the better? J Inherit Metab Dis. 2016;39:189–202.
  • Lavery C, Hendriksz C. Mortality in patients with Morquio syndrome A. JIMD Rep. 2015;15:59–66.
  • Pizarro C, Davies RR, Spurrier EA, et al. Surgical reconstruction for severe tracheal obstruction in Morquio A syndrome. Ann Thorac Surg. Forthcoming.
  • Kakkis ED, Muenzer J, Tiller GE, et al. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med. 2001;344:182–188.
  • 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.
  • Muenzer J, Lamsa JC, Garcia A, et al. Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report. Acta Paediatr Suppl. 2002;91:98–99.
  • Harmatz P, Whitley CB, Waber L, et al. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr. 2004;144:574–580.
  • 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.
  • 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.
  • 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.
  • 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. 2015;114:203–208.
  • Connock M, Juarez-Garcia A, Frew E, et al. A systematic review of the clinical effectiveness and cost-effectiveness of enzyme replacement therapies for Fabry’s disease and mucopolysaccharidosis type I. Health Technol Assess. 2006;10:1–6.
  • Rohrbach M, Clarke JT. Treatment of lysosomal storage disorders: progress with enzyme replacement therapy. Drugs. 2007;67:2697–2716.
  • Dickson P, Peinovich M, McEntee M, et al. Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis I. J Clin Invest. 2008;118:2868–2876.
  • Dvorak-Ewell M, Wendt D, Hague C, et al. Enzyme replacement in a human model of mucopolysaccharidosis IVA in vitro and its biodistribution in the cartilage of wild type mice. PLoS One. 2010;5(16):e12194.
  • Hendriksz CJ, Giugliani R, Harmatz P, et al. Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial. Mol Genet Metab. 2015;114:178–185.
  • Bartels B, De Groot JF, Terwee CB. The Six-Minute Walk Test in chronic pediatric conditions: asystematic review of measurement properties. Phys Ther. 2013;93:529–541.
  • Yasuda E, Suzuki Y, Shimada T, et al. Activity of daily living for Morquio A syndrome. Mol Genet Metab. 2016;118:111–122.
  • National Institute for Health and Care Excellence. Managed Access Agreement [Internet]. Elosulfase alfa for treating mucopolysaccharidosis type IVa. [cited 2016 Jul]. Available from: https://www.nice.org.uk/guidance/hst2/resources/managed-access-agreement-december-2015-2238935869
  • Tomatsu S, Montaño AM, Dung VC, et al. Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome. Mol Ther. 2010;18:1094–1102.
  • Hobbs JR, Hugh-Jones K, Barrett AJ, et al. Reversal of clinical features of Hurler’s disease and biochemical improvement after treatment by bone-marrow transplantation. Lancet. 1981;2:709–712.
  • Tanjuakio J, Suzuki Y, Patel P, et al. Activities of daily living in patients with Hunter syndrome: impact of enzyme replacement therapy and hematopoietic stem cell transplantation. Mol Genet Metab. 2015;114:161–169.
  • Vellodi A, Young E, Cooper A, et al. Long-term follow-up following bone marrow transplantation for Hunter disease. J Inherit Metab Dis. 1999;22:638–648.
  • Tolar J, Grewal SS, Bjoraker KJ, et al. Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome. Bone Marrow Transplant. 2008;41:531–535.
  • 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;10:513–520.
  • Yamada Y, Kato K, Sukegawa K, et al. Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation. Bone Marrow Transplant. 1998;21:629–634.
  • Khanna G, Van Heest AE, Agel J, et al. Analysis of factors affecting development of carpal tunnel syndrome in patients with Hurler syndrome after hematopoietic cell transplantation. Bone Marrow Transplant. 2007;39:331–334.
  • Shimada T, Kelly J, LaMarr WA, et al. Novel heparan sulfate assay by using automated high-throughput mass spectrometry: application to monitoring and screening for mucopolysaccharidoses. Mol Genet Metab. 2014;113:92–99.
  • 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.
  • Yasuda E, Mackenzie W, Ruhnke K, et al. Molecular Genetics and Metabolism Report long-term follow-up of post hematopoietic stem cell transplantation for Hurler syndrome: clinical, biochemical, and pathological improvements. Mol Genet Metab Rep. 2015;2:65–76.
  • Aldenhoven M, Wynn RF, Orchard PJ, et al. Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study. Blood. 2015;125:2164–2172.
  • Yasuda E, Fushimi K, Suzuki Y, et al. Pathogenesis of Morquio A syndrome: an autopsied case reveals systemic storage disorder. Mol Genet Metab. 2013;109:301–311.
  • Tardieu M, Zérah M, Husson B, et al. Intracerebral administration of adeno- associated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIA disease: results of a phase I/II trial. Hum Gene Ther. 2014;25:506–516.
  • Clinical trials of gene therapy for mucopolysaccharidosis. Available from: https://clinicaltrials.gov/
  • Maréchal V, Naffakh N, Danos O, et al. Disappearance of lysosomal storage in spleen and liver of mucopolysaccharidosis VII mice after transplantation of genetically modified bone marrow cells. Blood. 1993;82:1358–1365.
  • Hofling AA, Devine S, Vogler C, et al. Human CD34+ hematopoietic progenitor cell-directed lentiviral-mediated gene therapy in a xenotransplantation model of lysosomal storage disease. Mol Ther. 2004;9:856–865.
  • Zheng Y, Rozengurt N, Ryazantsev S, et al. Treatment of the mouse model of mucopolysaccharidosis I with retrovirally transduced bone marrow. Mol Genet Metab. 2003;79:233–244.
  • Zheng Y, Ryazantsev S, Ohmi K, et al. Retrovirally transduced bone marrow has a therapeutic effect on brain in the mouse model of mucopolysaccharidosis IIIB. Mol Genet Metab. 2004;82:286–295.
  • Lutzko C, Kruth S, Abrams-Ogg AC, et al. Genetically corrected autologous stem cells engraft, but host immune responses limit their utility in canine alpha-L-iduronidase deficiency. Blood. 1999;93:1895–1905.
  • Lutzko C, Omori F, Abrams-Ogg AC, et al. Gene therapy for canine alpha-L-iduronidase deficiency: in utero adoptive transfer of genetically corrected hematopoietic progenitors results in engraftment but not amelioration of disease. Hum Gene Ther. 1999;10:1521–1532.
  • Moullier P, Bohl D, Heard JM, et al. Correction of lysosomal storage in the liver and spleen of MPS VII mice by implantation of genetically modified skin fibroblasts. Nat Genet. 1993;4:154–159.
  • 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;7:1482–1491.
  • Wolfe JH, Sands MS, Harel N, et al. Gene transfer of low levels of beta-glucuronidase corrects hepatic lysosomal storage in a large animal model of mucopolysaccharidosis VII. Mol Ther. 2000;2:552–561.
  • Naffakh N, Pinset C, Montarras D, et al. Long-term secretion of therapeutic proteins from genetically modified skeletal muscles. Hum Gene Ther. 1996;7:11–21.
  • Shull RM, Lu X, McEntee MF, et al. Myoblast gene therapy in canine mucopolysaccharidosis I: abrogation by an immune response to alpha-L-iduronidase. Hum Gene Ther. 1996;7:1595–1603.
  • Hartung SD, Frandsen JL, Pan D, et al. Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human alpha-L-iduronidase gene. Mol Ther. 2004;9:866–875.
  • Kamata Y, Tanabe A, Kanaji A, et al. Long-term normalization in the central nervous system, ocular manifestations, and skeletal deformities by a single systemic adenovirus injection into neonatal mice with mucopolysaccharidosis VII. Gene Ther. 2003;10:406–414.
  • Kanaji A, Kosuga M, Li XK, et al. Improvement of skeletal lesions in mice with mucopolysaccharidosis type VII by neonatal adenoviral gene transfer. Mol Ther. 2003;8:718–725.
  • Toietta G, Severini GM, Traversari C, et al. Various cells retrovirally transduced with N-acetylgalactosoamine-6-sulfate sulfatase correct Morquio skin fibroblasts in vitro. Hum Gene Ther. 2001;12:2007–2016.
  • Hacein-Bey-Abina S, Garrigue A, Wang GP, et al. Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. J Clin Invest. 2008;118:3132–3142.
  • Alexander IE, Cunningham SC, Logan GJ, et al. Potential of AAV vectors in the treatment of metabolic disease. Gene Ther. 2008;15:831–839.
  • Carter BJ. Adeno-associated virus vectors in clinical trials. Hum Gene Ther. 2005;16:541–550.
  • Gutiérrez MA, García-Vallejo F, Tomatsu S, et al. Construction of an adenoassociated, viral derived, expression vector to correct the genetic defect in Morquio A disease. Biomedica. 2008;28:448–459.
  • Alméciga-Díaz CJ, Rueda-Paramo MA, Espejo AJ, et al. Effect of elongation factor 1alpha promoter and SUMF1 over in vitro expression of N-acetylgalactosamine-6-sulfate sulfatase. Mol Biol Rep. 2009;36:1863–1870.
  • Alméciga-Díaz CJ, Montaño AM, Tomatsu S, et al. Adeno-associated virus gene transfer in Morquio A disease – effect of promoters and sulfatase-modifying factor 1. Febs J. 2010;277:3608–3619.
  • Fraldi A, Biffi A, Lombardi A, et al. SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies. Biochem J. 2007;403:305–312.
  • Chatuparisute P, Shinohara Y, Kirchhoff C, et al. Immunohistochemical composition of the human lunotriquetral interosseous ligament. Appl Immunohistochem Mol Morphol. 2012;20:318–324.
  • Liu CY, Kao WW. Lumican promotes corneal epithelial wound healing. Methods Mol Biol. 2012;836:285–290.
  • Imagama S, Sakamoto K, Tauchi R, et al. Keratan sulfate restricts neural plasticity after spinal cord injury. J Neurosci. 2011;31:17091–17102.
  • Theroux MC, Nerker T, Ditro C, et al. Anesthetic care and perioperative complications of children with Morquio syndrome. Paediatr Anaesth. 2012;22:901–907.
  • Walker R, Belani KG, Braunlin EA, et al. Anaesthesia and airway management in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36:211–219.
  • Stevens JM, Kendall BE, Crockard HA, et al. The odontoid process in Morquio-Brailsford’s disease. The effects of occipitocervical fusion. J Bone Joint Surg Br. 1991;73:851–858.
  • Hughes DG, Chadderton RD, Cowie RA, et al. MRI of the brain and craniocervical junction in Morquio’s disease. Neuroradiology. 1997;39:381–385.
  • White KK, Steinman S, Mubarak SJ. Cervical stenosis and spastic quadriparesis in Morquio disease (MPS IV) .A case report with twenty-six-year follow-up. J Bone Joint Surg Am. 2009;91:438–442.
  • Solanki GA, Martin KW, Theroux MC, et al. Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. J Inherit Metab Dis. 2013;36:339–355.
  • Ransford AO, Crockard HA, Stevens JM, et al. Occipito-atlanto-axial fusion in morquio-brailsford syndrome .A ten-year experience. J Bone Joint Surg Br. 1996;78:307–313.
  • Lipson SJ. Dysplasia of the odontoid process in Morquio’s syndrome causing quadriparesis. J Bone Joint Surg Am. 1977;59:340–344.
  • Dede O, Thacker MM, Rogers KJ, et al. Upper cervical fusion in children with Morquio syndrome: intermediate to long-term results. J Bone Joint Surg Am. 2013;95:1228–1234.
  • Mikles M, Stanton RP. A review of Morquio syndrome. Am J Orthop (Belle Mead NJ). 1997;26:533–540.
  • Dhawale AA, Thacker MM, Belthur MV, et al. The lower extremity in Morquio syndrome. J Pediatr Orthop. 2012;32:534–540.
  • White KK, Jester A, Bache CE, et al. Orthopedic management of the extremities in patients with Morquio A syndrome. J Child Orthop. 2014;8:295–304.
  • Hendriksz CJ, Berger KI, Giugliani R, et al. International guidelines for the management and treatment of Morquio A syndrome. Am J Med Genet A. 2015;167A:11–25.
  • Pritzker MR, King RA, Kronenberg RS. Upper airway obstruction during head flexion in morquio’s disease. Am J Med. 1980;69:467–470.
  • Diaz JH, Belani KG. Perioperative management of children with mucopolysaccharidoses. Anesth Analg. 1993;77:1261–1270.
  • Drummond JC, Krane EJ, Tomatsu S, et al. Paraplegia after epidural-general anesthesia in a Morquio patient with moderate thoracic spinal stenosis. Can J Anaesth. 2015;62:45–49.
  • Apfelbaum JL, Hagberg CA, Caplan RA, et al. Practice guidelines for management of the difficult airway: an updated report by the American Society of Anesthesiologists Task Force on Management of the Difficult Airway. Anesthesiology. 2013;118:251–270.
  • Wiatrak BJ. Congenital anomalies of the larynx and trachea. Otolaryngol Clin North Am. 2000;33:91–110.

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