Journal of Inherited Metabolic Disease

, Volume 37, Issue 4, pp 587–598

Treatment of lysosomal storage disorders: successes and challenges

ICIEM Symposium 2013

Abstract

Treatment options for a number of lysosomal storage disorders have rapidly expanded and currently include enzyme replacement therapy, substrate reduction, chaperone treatment, hematopoietic stem cell transplantation, and gene-therapy. Combination treatments are also explored. Most therapies are not curative but change the phenotypic expression of the disease. The effectiveness of treatment varies considerably between the different diseases, but also between sub-groups of patients with a specific lysosomal storage disorder. The heterogeneity of the patient populations complicates the prediction of benefits of therapy, specifically in patients with milder disease manifestations. In addition, there is a lack of data on the natural history of diseases and disease phenotypes. Initial trial data show benefits on relevant short-term endpoints, but the real world situation may reveal different outcomes. Collaborative international studies are much needed to study the long-term clinical efficacy of treatments, and to detect new complications or associated conditions of the diseases. This review summarizes the available treatment modalities for lysosomal storage disorders and the challenges associated with long term clinical care for these patients.

References

  1. Aerts JM, Boot RG, van Eijk M et al (2011) Glycosphingolipids and insulin resistance. Adv Exp Med Biol 721:99–119PubMedCrossRefGoogle Scholar
  2. Aerts JM, Groener JE, Kuiper S et al (2008) Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A 105:2812–2817PubMedCentralPubMedCrossRefGoogle Scholar
  3. Aldenhoven M, Boelens JJ, de Koning TJ (2008) The clinical outcome of Hurler syndrome after stem cell transplantation. Biol Blood Marrow Transplant 14:485–498PubMedCrossRefGoogle Scholar
  4. Aldenhoven M, Sakkers RJ, Boelens J, de Koning TJ, Wulffraat NM (2009) Musculoskeletal manifestations of lysosomal storage disorders. Ann Rheum Dis 68:1659–1665PubMedCrossRefGoogle Scholar
  5. Arends M, van Dussen L, Biegstraaten M, Hollak CE (2013) Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature. Br J Haematol 161:832–842PubMedCrossRefGoogle Scholar
  6. Banikazemi M, Bultas J, Waldek S et al (2007) Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 146:77–86PubMedCrossRefGoogle Scholar
  7. Banugaria SG, Prater SN, Ng YK et al (2011) The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. Genet Med 13:729–736PubMedCentralPubMedCrossRefGoogle Scholar
  8. Banugaria SG, Prater SN, Patel TT et al (2013) Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT. PLoS One 8:e67052PubMedCentralPubMedCrossRefGoogle Scholar
  9. Biffi A, Montini E, Lorioli L et al (2013) Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy. Science 341:1233158PubMedCrossRefGoogle Scholar
  10. Boelens JJ, Prasad VK, Tolar J, Wynn RF, Peters C (2010) Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders. Pediatr Clin North Am 57:123–145PubMedCrossRefGoogle Scholar
  11. Boelens JJ, Rocha V, Aldenhoven M et al (2009) Risk factor analysis of outcomes after unrelated cord blood transplantation in patients with hurler syndrome. Biol Blood Marrow Transplant 15:618–625PubMedCrossRefGoogle Scholar
  12. Boomsma JM, van Dussen L, Wiersma MG, Groener JE, Aerts JM, Maas M, Hollak CE (2010) Spontaneous regression of disease manifestations can occur in type 1 Gaucher disease; results of a retrospective cohort study. Blood Cells Mol Dis 44:181–187PubMedCrossRefGoogle Scholar
  13. Boven LA, van Meurs M, Boot RG, Mehta A, Boon L, Aerts JM, Laman JD (2004) Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages. Am J Clin Pathol 122:359–369PubMedCrossRefGoogle Scholar
  14. Boyd RE, Lee G, Rybczynski P, Benjamin ER, Khanna R, Wustman BA, Valenzano KJ (2013) Pharmacological chaperones as therapeutics for lysosomal storage diseases. J Med Chem 56:2705–2725PubMedCrossRefGoogle Scholar
  15. Capablo JL, Franco R, de Cabezon AS, Alfonso P, Pocovi M, Giraldo P (2007) Neurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase/miglustat combination. Epilepsia 48:1406–1408PubMedCrossRefGoogle Scholar
  16. Chang HH, Asano N, Ishii S, Ichikawa Y, Fan JQ (2006) Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients. FEBS J 273:4082–4092PubMedCrossRefGoogle Scholar
  17. Cox T, Lachmann R, Hollak C et al (2000) Novel oral treatment of Gaucher’s disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 355:1481–1485PubMedCrossRefGoogle Scholar
  18. Cox-Brinkman J, Boelens JJ, Wraith JE et al (2006) Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndrome. Bone Marrow Transplant 38:17–21PubMedCrossRefGoogle Scholar
  19. Cox-Brinkman J, van den Bergh Weerman MA, Wijburg FA, Aerts JM, Florquin S, van der Lee JH, Hollak CE (2010) Ultrastructural analysis of dermal fibroblasts in mucopolysaccharidosis type I: effects of enzyme replacement therapy and hematopoietic cell transplantation. Ultrastruct Pathol 34:126–132PubMedCrossRefGoogle Scholar
  20. Davidson CD, Ali NF, Micsenyi MC et al (2009) Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression. PLoS One 4:e6951PubMedCentralPubMedCrossRefGoogle Scholar
  21. de Fost M, van Noesel CJ, Aerts JM, Maas M, Poll RG, Hollak CE (2008) Persistent bone disease in adult type 1 Gaucher disease despite increasing doses of enzyme replacement therapy. Haematologica 93:1119–1120PubMedCrossRefGoogle Scholar
  22. de Ru MH, Boelens JJ, Das AM et al (2011) 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 6:55PubMedCentralPubMedCrossRefGoogle Scholar
  23. de Ruijter J, Valstar MJ, Narajczyk M et al (2012) Genistein in Sanfilippo disease: a randomized controlled crossover trial. Ann Neurol 71:110–120PubMedCrossRefGoogle Scholar
  24. Ebbink BJ, Aarsen FK, van Gelder CM et al (2012) Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy. Neurology 78:1512–1518PubMedCrossRefGoogle Scholar
  25. Eisengart JB, Rudser KD, Tolar J et al (2013) Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome. J Pediatr 162:375–80.e1PubMedCentralPubMedCrossRefGoogle Scholar
  26. Elleder M (2006) Glucosylceramide transfer from lysosomes–the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data. J Inherit Metab Dis 29:707–715PubMedCrossRefGoogle Scholar
  27. Eng CM, Guffon N, Wilcox WR et al (2001) Safety and efficacy of recombinant human alpha-galactosidase A–replacement therapy in Fabry’s disease. N Engl J Med 345:9–16PubMedCrossRefGoogle Scholar
  28. Escolar ML, Poe MD, Provenzale JM et al (2005) Transplantation of umbilical-cord blood in babies with infantile Krabbe’s disease. N Engl J Med 352:2069–2081PubMedCrossRefGoogle Scholar
  29. Fan JQ, Ishii S (2007) Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors. FEBS J 274:4962–4971PubMedCrossRefGoogle Scholar
  30. Fan JQ, Ishii S, Asano N, Suzuki Y (1999) Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. Nat Med 1:112–5CrossRefGoogle Scholar
  31. Favejee MM, Huisstede BM, Bussmann JB, Kruijshaar ME, van der Ploeg AT (2012) Physiotherapy management in late-onset Pompe disease: clinical practice in 88 patients. Mol Genet Metab 107:111–115PubMedCrossRefGoogle Scholar
  32. Field RE, Buchanan JA, Copplemans MG, Aichroth PM (1994) Bone-marrow transplantation in Hurler’s syndrome. Effect on skeletal development. J Bone Joint Surg (Br) 76:975–981Google Scholar
  33. Frustaci A, Chimenti C, Ricci R et al (2001) Improvement in cardiac function in the cardiac variant of Fabry’s disease with galactose-infusion therapy. N Engl J Med 345:25–32PubMedCrossRefGoogle Scholar
  34. Germain DP (2010) Fabry disease. Orphanet J Rare Dis 5:30PubMedCentralPubMedCrossRefGoogle Scholar
  35. Hacein-Bey-Abina S, Garrigue A, Wang GP et al (2008) Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. J Clin Invest 118:3132–3142PubMedCentralPubMedCrossRefGoogle Scholar
  36. Helquist P, Maxfield FR, Wiech NL, Wiest O (2013) Treatment of Niemann–pick type C disease by histone deacetylase inhibitors. Neurotherapeutics 10:688–697PubMedCrossRefGoogle Scholar
  37. Heron B, Valayannopoulos V, Baruteau J et al (2012) Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C. Orphanet J Rare Dis 7:36PubMedCentralPubMedCrossRefGoogle Scholar
  38. Hollak CE, Aerts JM, Ayme S, Manuel J (2011) Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders. Orphanet J Rare Dis 6:16PubMedCentralPubMedCrossRefGoogle Scholar
  39. Hsu J, Northrup L, Bhowmick T, Muro S (2012) Enhanced delivery of alpha-glucosidase for Pompe disease by ICAM-1-targeted nanocarriers: comparative performance of a strategy for three distinct lysosomal storage disorders. Nanomedicine 8:731–739PubMedCentralPubMedCrossRefGoogle Scholar
  40. Hughes DA, Pastores GM (2013) Haematological manifestations and complications of Gaucher disease. Curr Opin Hematol 20:41–47PubMedCrossRefGoogle Scholar
  41. Hulkova H, Ledvinova J, Poupetova H, Kohout A, Malinova V, Elleder M (2009) Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process. J Inherit Metab Dis 32:551–559PubMedCrossRefGoogle Scholar
  42. Ito S, Barrett AJ (2013) Gauchers disease–a reappraisal of hematopoietic stem cell transplantation. Pediatr Hematol Oncol 30:61–70PubMedCrossRefGoogle Scholar
  43. Jakobkiewicz-Banecka J, Piotrowska E, Narajczyk M, Baranska S, Wegrzyn G (2009) 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 16:26PubMedCentralPubMedCrossRefGoogle Scholar
  44. Khanna R, Soska R, Lun Y et al (2010) The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. Mol Ther 18:23–33PubMedCentralPubMedCrossRefGoogle Scholar
  45. Kingma SD, Langereis EJ, De Klerk CM et al (2013) An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life. Orphanet J Rare Dis 8:99PubMedCentralPubMedCrossRefGoogle Scholar
  46. Kirkegaard T, Roth AG, Petersen NH et al (2010) Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology. Nature 463:549–553PubMedCrossRefGoogle Scholar
  47. Kuter DJ, Mehta A, Hollak CE et al (2013) Miglustat therapy in type 1 Gaucher disease: clinical and safety outcomes in a multicenter retrospective cohort study. Blood Cells Mol Dis 51:116–124PubMedCrossRefGoogle Scholar
  48. Langereis EJ, Borgo A, Crushell E et al (2013) Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure. Orphanet J Rare Dis 8:155PubMedCentralPubMedCrossRefGoogle Scholar
  49. Lebel E, Elstein D, Peleg A, Reinus C, Zimran A, Amir G (2013) Histologic findings of femoral heads from patients with Gaucher disease treated with enzyme replacement. Am J Clin Pathol 140:91–96PubMedCrossRefGoogle Scholar
  50. Lieberman AP, Puertollano R, Raben N, Slaugenhaupt S, Walkley SU, Ballabio A (2012) Autophagy in lysosomal storage disorders. Autophagy 8:719–730PubMedCentralPubMedCrossRefGoogle Scholar
  51. Liu B, Turley SD, Burns DK, Miller AM, Repa JJ, Dietschy JM (2009) Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1−/− mouse. Proc Natl Acad Sci U S A 106:2377–2382PubMedCentralPubMedCrossRefGoogle Scholar
  52. Machaczka M (2013) Allogeneic hematopoietic stem cell transplantation for treatment of Gaucher disease. Pediatr Hematol Oncol 30:459–461PubMedCrossRefGoogle Scholar
  53. Masciullo M, Santoro M, Modoni A, Ricci E, Guitton J, Tonali P, Silvestri G (2010) Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up. J Inherit Metab Dis 33(Suppl 3):S355–S361PubMedCrossRefGoogle Scholar
  54. Meikle PJ, Hopwood JJ, Clague AE, Carey WF (1999) Prevalence of lysosomal storage disorders. JAMA 281:249–254PubMedCrossRefGoogle Scholar
  55. Muenzer J, Beck M, Eng CM et al (2009a) Multidisciplinary management of Hunter syndrome. Pediatrics 124:e1228–e1239PubMedCrossRefGoogle Scholar
  56. Muenzer J, Wraith JE, Clarke LA (2009b) Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics 123:19–29PubMedCrossRefGoogle Scholar
  57. Nietupski JB, Pacheco JJ, Chuang WL et al (2012) Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann-Pick C mice. Mol Genet Metab 105:621–628PubMedCrossRefGoogle Scholar
  58. Ohashi T (2012) Enzyme replacement therapy for lysosomal storage diseases. Pediatr Endocrinol Rev 10(Suppl 1):26–34PubMedGoogle Scholar
  59. Ortolano S, Vieitez I, Navarro C, Spuch C (2014) Treatment of lysosomal storage diseases: recent patents and future strategies. Recent Pat Endocrinol Metab Immune Drug Discov 8:9–25CrossRefGoogle Scholar
  60. Pan C, Nelson MS, Reyes M et al (2005) Functional abnormalities of heparan sulfate in mucopolysaccharidosis-I are associated with defective biologic activity of FGF-2 on human multipotent progenitor cells. Blood 106:1956–1964PubMedCentralPubMedCrossRefGoogle Scholar
  61. Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F (2012) Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab 106:330–344PubMedCrossRefGoogle Scholar
  62. Patterson MC, Vecchio D, Prady H, Abel L, Wraith JE (2007) Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol 6:765–772PubMedCrossRefGoogle Scholar
  63. Pavlova EV, Wang SZ, Archer J, Dekker N, Aerts JM, Karlsson S, Cox TM (2013) B cell lymphoma and myeloma in murine Gaucher’s disease. J Pathol 231:88–97PubMedCrossRefGoogle Scholar
  64. Pineda M, Wraith JE, Mengel E et al (2009) Miglustat in patients with Niemann-Pick disease type C (NP-C): a multicenter observational retrospective cohort study. Mol Genet Metab 98:243–249PubMedCrossRefGoogle Scholar
  65. Pipalia NH, Cosner CC, Huang A et al (2011) Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts. Proc Natl Acad Sci U S A 108:5620–5625PubMedCentralPubMedCrossRefGoogle Scholar
  66. Porto C, Cardone M, Fontana F et al (2009) The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts. Mol Ther 17:964–971PubMedCentralPubMedCrossRefGoogle Scholar
  67. Porto C, Pisani A, Rosa M et al (2012) Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease. J Inherit Metab Dis 35:513–520PubMedCrossRefGoogle Scholar
  68. Prasad VK, Mendizabal A, Parikh SH et al (2008) 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 112:2979–2989PubMedCentralPubMedCrossRefGoogle Scholar
  69. Prater SN, Banugaria SG, DeArmey SM et al (2012) (2012) The emerging phenotype of long-term survivors with infantile Pompe disease. Genet Med 14:800–810PubMedCentralPubMedCrossRefGoogle Scholar
  70. Rombach SM, Aerts JM, Poorthuis BJ et al (2012) Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome. PLoS One 7:e47805PubMedCentralPubMedCrossRefGoogle Scholar
  71. Rombach SM, Twickler TB, Aerts JM, Linthorst GE, Wijburg FA, Hollak CE (2010) Vasculopathy in patients with Fabry disease: current controversies and research directions. Mol Genet Metab 99:99–108PubMedCrossRefGoogle Scholar
  72. Sanderson S, Green A, Preece MA, Burton H (2006) The incidence of inherited metabolic disorders in the West Midlands, UK. Arch Dis Child 91:896–899PubMedCentralPubMedCrossRefGoogle Scholar
  73. Schiffmann R (2009) Fabry disease. Pharmacol Ther 122:65–77PubMedCrossRefGoogle Scholar
  74. Schiffmann R, Fitzgibbon EJ, Harris C et al (2008) Randomized, controlled trial of miglustat in Gaucher’s disease type 3. Ann Neurol 64:514–522PubMedCentralPubMedCrossRefGoogle Scholar
  75. Schneider I, Hanisch F, Müller T, Schmidt B, Zierz S (2013) Respiratory function in late-onset Pompe disease patients receiving long-term enzyme replacement therapy for more than 48 months. Wien Med Wochenschr 163:40–44PubMedCrossRefGoogle Scholar
  76. Schuchman EH, Ge Y, Lai A et al (2013) Pentosan polysulfate: a novel therapy for the mucopolysaccharidoses. PLoS One 8:e54459PubMedCentralPubMedCrossRefGoogle Scholar
  77. Scott CR, Elliott S, Buroker N et al (2013) Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry. J Pediatr 163:498–503PubMedCrossRefGoogle Scholar
  78. Shapiro BE, Pastores GM, Gianutsos J, Luzy C, Kolodny EH (2009) Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment. Genet Med 11:425–433PubMedCrossRefGoogle Scholar
  79. Shayman JA (2010) ELIGLUSTAT TARTRATE: glucosylceramide synthase inhibitor treatment of type 1 Gaucher disease. Drugs Future 35:613–620PubMedCentralPubMedGoogle Scholar
  80. Simonaro CM, D’Angelo M, He X, Eliyahu E, Shtraizent N, Haskins ME, Schuchman EH (2008) Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases. Am J Pathol 172:112–122PubMedCentralPubMedCrossRefGoogle Scholar
  81. Solanki GA, Martin KW, Theroux MC et al (2013) Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. J Inherit Metab Dis 36:339–355PubMedCentralPubMedCrossRefGoogle Scholar
  82. Tajima Y, Kawashima I, Tsukimura T et al (2009) Use of a modified alpha-N-acetylgalactosaminidase in the development of enzyme replacement therapy for Fabry disease. Am J Hum Genet 85:569–580PubMedCentralPubMedCrossRefGoogle Scholar
  83. Tondel C, Bostad L, Larsen KK, Hirth A, Vikse BE, Houge G, Svarstad E (2013) Agalsidase benefits renal histology in young patients with Fabry disease. J Am Soc Nephrol 24:137–148PubMedCrossRefGoogle Scholar
  84. Van den Hout H, Reuser AJ, Vulto AG, Loonen MC, Cromme-Dijkhuis A, Van der Ploeg AT (2000) Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet 356:397–398PubMedCrossRefGoogle Scholar
  85. van der Beek NA, de Vries JM, Hagemans ML (2012) Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study. Orphanet J Rare Dis 7:88PubMedCentralPubMedCrossRefGoogle Scholar
  86. van der Ploeg AT, Clemens PR, Corzo D et al (2010) A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med 362:1396–1406PubMedCrossRefGoogle Scholar
  87. van der Tol L, Smid BE, Poorthuis BJ, Biegstraaten M, Deprez RH, Linthorst GE, Hollak CE (2014) A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance. J Med Genet 51:1–9PubMedCrossRefGoogle Scholar
  88. Vanier MT (2013) Niemann-Pick diseases. Handb Clin Neurol 113:1717–1721PubMedCrossRefGoogle Scholar
  89. Vellodi A, Tylki-Szymanska A, Davies EH et al (2009) Management of neuronopathic Gaucher disease: revised recommendations. J Inherit Metab Dis 32:660–664PubMedCrossRefGoogle Scholar
  90. Visigalli I, Delai S, Politi LS et al (2010) Gene therapy augments the efficacy of hematopoietic cell transplantation and fully corrects mucopolysaccharidosis type I phenotype in the mouse model. Blood 116:5130–5139PubMedCentralPubMedCrossRefGoogle Scholar
  91. Walker R, Belani KG, Braunlin EA et al (2013) Anaesthesia and airway management in mucopolysaccharidosis. J Inherit Metab Dis 36:211–219PubMedCentralPubMedCrossRefGoogle Scholar
  92. Weidemann F, Niemann M, Stork S et al (2013a) Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications. J Intern Med 274:331–341PubMedCrossRefGoogle Scholar
  93. Weidemann F, Sanchez-Nino MD, Politei J, Oliveira JP, Wanner C, Warnock DG, Ortiz A (2013b) Fibrosis: a key feature of Fabry disease with potential therapeutic implications. Orphanet J Rare Dis 8:116PubMedCentralPubMedCrossRefGoogle Scholar
  94. Weinreb NJ, Lee RE (2013) Causes of death due to hematological and non-hematological cancers in 57 US patients with type 1 Gaucher Disease who were never treated with enzyme replacement therapy. Crit Rev Oncog 18:177–195PubMedCrossRefGoogle Scholar
  95. Weisstein JS, Delgado E, Steinbach LS, Hart K, Packman S (2004) Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation. J Pediatr Orthop 24:97–101PubMedCrossRefGoogle Scholar
  96. Wraith JE (2013) Mucopolysaccharidoses and mucolipidoses. Handb Clin Neurol 113:1723–1729PubMedCrossRefGoogle Scholar
  97. Wraith JE, Beck M, Lane R et al (2007) 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 120:e37–e46PubMedCrossRefGoogle Scholar
  98. Yang C, Rahimpour S, Lu J, Pacak K, Ikejiri B, Brady RO, Zhuang Z (2013) Histone deacetylase inhibitors increase glucocerebrosidase activity in Gaucher disease by modulation of molecular chaperones. Proc Natl Acad Sci U S A 110:966–971PubMedCentralPubMedCrossRefGoogle Scholar
  99. Young-Gqamana B, Brignol N, Chang HH et al (2013) Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients. PLoS One 8:e57631PubMedCentralPubMedCrossRefGoogle Scholar
  100. Zimran A (2011) How I treat Gaucher disease. Blood 118:1463–1471PubMedCrossRefGoogle Scholar

Copyright information

© SSIEM and Springer Science+Business Media Dordrecht 2014

Authors and Affiliations

  1. 1.Department of Internal Medicine, Division of Endocrinology and MetabolismSPHINX, Amsterdam Lysosome Center, Academic Medical CenterAmsterdamThe Netherlands
  2. 2.Department of Pediatric Metabolic DisordersAcademic Medical CenterAmsterdamThe Netherlands

Personalised recommendations