Seminars in Hematology
Volume 47, Issue 1 , Pages 59-69 , January 2010

Transplant Outcomes in Mucopolysaccharidoses

  • Vinod K. Prasad

      Affiliations

    • Corresponding Author InformationAddress correspondence to Vinod K. Prasad, MD, Division of Pediatric Blood and Marrow Transplantation, Box 3350, Duke University Medical Center, Durham, NC 27710
    • ,
  • Joanne Kurtzberg

References 

  1. Neufeld EF, Muenzer J. The mucopolysaccharidosis. In:  Sciver C,  Beaudet A,  Sly WS,  Valle D editor. The metabolic and molecular basis of inherited disease. New York: McGraw-Hill; 2001;p. 3421–3452
  2. Clarke LA, Wraith JE, Beck M, Kolodny EH, Pastores GM, Muenzer J, et al. Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics. 2009;123:229–240
  3. Desnick RJ. Enzyme replacement and enhancement therapies for lysosomal diseases. J Inherit Metab Dis. 2004;27:385–410
  4. Wraith JE. Advances in the treatment of lysosomal storage disease. Dev Med Child Neurol. 2001;43:639–646
  5. Wraith JE. The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I. Exp Opin Pharmacother. 2005;6:489–506
  6. Krivit W, Aubourg P, Shapiro E, Peters C. Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome. Curr Opin Hematol. 1999;6:377–382
  7. Orchard PJ, Blazar BR, Wagner J, et al. Hematopoietic cell therapy for metabolic disease. J Pediatr. 2007;151:340–346
  8. Peters C, Shapiro EG, Krivit W. Hurler syndrome: past, present, and future. J Pediatr. 1998;133:7–9
  9. Prasad VK, Kurtzberg J. Emerging trends in transplantation of inherited metabolic diseases. Bone Marrow Transplant. 2008;41:99–108
  10. Fratantoni JC, Hall CW, Neufeld EF. Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science. 1968;162:570–572
  11. Muenzer J, Fisher A. Advances in the treatment of mucopolysaccharidosis type I. N Engl J Med. 2004;350:1932–1934
  12. Muenzer J, Wraith JE, Clarke LA. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 2009;123:19–29
  13. Neufeld EF, Fratantoni JC. Inborn errors of mucopolysaccharide metabolism. Science. 1970;169:141–146
  14. Chua SJ, Bielecki R, Wong CJ, Yamanaka N, Rogers IM, Casper RF. Neural progenitors, neurons and oligodendrocytes from human umbilical cord blood cells in a serum-free, feeder-free cell culture. Biochem Biophys Res Commun. 2009;379:217–221
  15. Kogler G, Sensken S, Airey JA, Trapp T, Muschen M, Feldhahn N, et al. A new human somatic stem cell from placental cord blood with intrinsic pluripotent differentiation potential. J Exp Med. 2004;35:23–35
  16. Tracy E, Aldrink J, Panosian J, Beam D, Thacker J, Reese M, et al. Isolation of oligodendrocyte-like cells from human umbilical cord blood. Cytotherapy. 2008;10:518–525
  17. Hess DA, Craft TP, Wirthlin L, Hohm S, Zhou P, Eades WC, et al. Widespread nonhematopoietic tissue distribution by transplanted human progenitor cells with high aldehyde dehydrogenase activity. Stem Cells. 2008;26:611–620
  18. Yagi T, Matsuda J, Tominaga K, Suzuki K, Suzuki K. Hematopoietic cell transplantation ameliorates clinical phenotype and progression of the CNS pathology in the mouse model of late onset Krabbe disease. J Neuropathol Exp Neurol. 2005;64:565–575
  19. Hobbs JR, Hugh-Jones K, Barrett AJ, Byrom N, Chambers D, Henry K, et al. Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation. Lancet. 1981;8249:709–712
  20. Krivit W, Pierpont ME, Ayaz K, Tsai M, Ramsay NK, Kersey JH, 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
  21. Boelens JJ. Trends in haematopoietic cell transplantation for inborn errors of metabolism. J Inherit Metab Dis. 2006;29:413–420
  22. Boelens JJ, Rocha V, Aldenhoven M, Wynn R, O'Meara A, Michel G, et al. Risk factor analysis of outcomes after unrelated cord blood transplantation in patients with Hurler syndrome. Biol Blood Marrow Transplant. 2009;15:618–625
  23. Martin PL, Carter SL, Kernan NA, Sahdev I, Wall D, Pietryga D, et al. Results of the Cord Blood Transplantation Study (COBLT): outcomes of unrelated donor umbilical cord blood transplantation in pediatric patients with lysosomal and peroxisomal storage diseases. Biol Blood Marrow Transplant. 2006;12:184–194
  24. Prasad VK, Mendizabal A, Parikh SH, Szabolcs P, Driscoll TA, Page K, 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
  25. Staba SL, Escolar ML, Poe M, Kim Y, Martin PL, Szabolcs P, et al. Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med. 2004;350:1960–1969
  26. Krivit W, Lockman LA, Watkins PA, Hirsch J, Shapiro EG. The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndrome. J Inherit Metab Dis. 1995;18:398–412
  27. Bjoraker KJ, Delaney K, Peters C, Krivit W, Shapiro EG. Long-term outcomes of adaptive functions for children with mucopolysaccharidosis I (Hurler syndrome) treated with hematopoietic stem cell transplantation. J Dev Behav Pediatr. 2006;27:290–296
  28. Boelens JJ, Wynn RF, O'Meara A, Veys P, Bertrand Y, Souillet G, et al. Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure. Bone Marrow Transplant. 2007;40:225–233
  29. Church H, Tylee K, Cooper A, Thornley M, Mercer J, Wraith E, et al. Biochemical monitoring after haemopoietic stem cell transplant for Hurler syndrome (MPSIH): implications for functional outcome after transplant in metabolic disease. Bone Marrow Transplant. 2007;39:207–210
  30. Cox-Brinkman J, Boelens JJ, Wraith JE, O'Meara A, Veys P, Wijburg FA, et al. Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndrome. Bone Marrow Transplant. 2006;38:17–21
  31. Dusing SC, Rosenberg A, Hiemenz JR, Piner S, Escolar M. Gross and fine motor skills of children with Hurler syndrome (MPS-IH) post umbilical cord blood transplantation: a case series report. Pediatr Phys Ther. 2005;17:264–267
  32. Field RE, Buchanan JA, Copplemans MG, Aichroth PM. Bone-marrow transplantation in Hurler's syndrome (Effect on skeletal development). J Bone Joint Surg Br. 1994;76:975–981
  33. Grigull L, Beilken A, Schrappe M, Das A, Luecke T, Sander A, et al. Transplantation of allogeneic CD34-selected stem cells after fludarabine-based conditioning regimen for children with mucopolysaccharidosis 1H (M. Hurler). Bone Marrow Transplant. 2004;35:265–269
  34. 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
  35. Peters C, Balthazor M, Shapiro EG, King RJ, Kollman C, Hegland JD, et al. Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood. 1996;87:4894–4902
  36. Phipps S, Mulhern R. Developmental outcome of unrelated donor bone marrow transplantation in children with Hurler syndrome. Blood. 1997;89:732–734
  37. Souillet G, Guffon N, Maire I, Pujol M, Taylor P, Sevin F, 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
  38. Tolar J, Grewal SS, Bjoraker KJ, Whitley CB, Shapiro EG, Charnas L, et al. Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome. Bone Marrow Transplant. 2008;41:531–535
  39. Whitley CB, Ramsay NK, Kersey JH, Krivit W. Bone marrow transplantation for Hurler syndrome: assessment of metabolic correction. Birth Defects. 1986;22:7–24
  40. Whitley CB, Belani KG, Chang PN, Summers CG, Blazar BR, Tsai MY, et al. Long-term outcome of Hurler syndrome following bone marrow transplantation. Am J Med Genet. 1993;46:209–218
  41. Aldenhoven M, Boelens JJ, de Koning TJ. The clinical outcome of Hurler syndrome after stem cell transplantation. Biol Blood Marrow Transplant. 2008;14:485–498
  42. Vellodi A. Lysosomal storage disorders. Br J Haematol. 2005;128:413–431
  43. Peters C, Shapiro EG, Anderson J, Henslee-Downey PJ, Klemperer MR, Cowan MJ, et al. The Storage Disease Collaborative Study Group Hurler syndrome: II (Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children). Blood. 1998;91:2601–2608
  44. Vellodi A, Young EP, Cooper A, Wraith JE, Winchester B, Meaney C, et al. Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres. Arch Dis Child. 1997;76:92–99
  45. Hopwood JJ, Vellodi A, Scott HS, Morris CP, Litjens T, Clements PR, et al. Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype. J Inherit Metab Dis. 1993;16:1024–1033
  46. Belani KG, Krivit W, Carpenter BL, Braunlin E, Buckley JJ, Liao JC, et al. Children with mucopolysaccharidosis: perioperative care, morbidity, mortality, and new findings. J Pediatr Surg. 1993;28:403–408
  47. Braunlin E, Key-Bojack S, Panoskaltsis-Mortari A, Berry JM, McElmurry RT, Riddle M, et al. Cardiac functional and histopathologic findings in humans and mice with mucopolysaccharidosis type I: implications for assessment of therapeutic interventions in hurler syndrome. Pediatr Res. 2006;59:27–32
  48. Gatzoulis MA, Vellodi A, Redington AN. Cardiac involvement in mucopolysaccharidoses: effects of allogeneic bone marrow transplantation. Arch Dis Child. 1995;73:259–260
  49. Vinallonga X, Sanz N, Balaguer A, Miro L, Ortega JJ, Casaldaliga J. Hypertrophic cardiomyopathy in mucopolysaccharidoses: regression after bone marrow transplantation. Pediatr Cardiol. 1992;13:107–109
  50. Hite SH, Peters C, Krivit W. Correction of odontoid dysplasia following bone-marrow transplantation and engraftment (in Hurler syndrome MPS 1H). Pediatr Radiol. 2000;30:464–470
  51. Fleming DR, Henslee-Downey PJ, Ciocci G, Romond EH, Marciniak E, Munn RK, et al. The use of partially HLA-mismatched donors for allogeneic transplantation in patients with mucopolysaccharidosis-I. Pediatr Transplant. 1998;2:299–304
  52. Khanna G, Van Heest AE, Agel J, Bjoraker K, Grewal S, Abel S, 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
  53. Walkley SU. Secondary accumulation of gangliosides in lysosomal storage disorders. Semin Cell Dev Biol. 2004;15:433–444
  54. Gullingsrud EO, Krivit W, Summers CG. Ocular abnormalities in the mucopolysaccharidoses after bone marrow transplantation (Longer follow-up). Ophthalmology. 1998;105:1099–1105
  55. Tzetzi D, Hamilton R, Robinson PH, Dutton GN. Negative ERGs in mucopolysaccharidoses (MPS) Hurler-Scheie (I-H/S) and Hurler (I-H)-syndromes. Doc Ophthalmol. 2007;114:153–158
  56. Shapiro EG, Lockman LA, Balthazor M, Krivit W. Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation. J Inherit Metab Dis. 1995;18:413–429
  57. Weisstein JS, Delgado E, Steinbach LS, Hart K, Packman S. Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation. J Pediatr Orthop. 2004;24:97–101
  58. Odunusi E, Peters C, Krivit W, Ogilvie J. Genu valgum deformity in Hurler syndrome after hematopoietic stem cell transplantation: correction by surgical intervention. J Pediatr Orthop. 1999;19:270–274
  59. Masterson EL, Murphy PG, O'Meara A, Moore DP, Dowling FE, Fogarty EE. Hip dysplasia in Hurler's syndrome: orthopaedic management after bone marrow transplantation. J Pediatr Orthop. 1996;16:731–733
  60. Krivit W, Peters C, Shapiro EG. Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III. Curr Opin Neurol. 1999;12:167–176
  61. Krivit W. Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases. Semin Immunopathol. 2004;26:119–132
  62. Rovelli AM, Steward CG. Hematopoietic cell transplantation activity in Europe for inherited metabolic diseases: open issues and future directions. Bone Marrow Transplant. 2005;35(Suppl 1):S23–S26
  63. Peters C, Steward CG. Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. Bone Marrow Transplant. 2003;31:229–239
  64. Kurtzberg J, Kosaras B, Stephens C, Snyder EY. Umbilical cord blood cells engraft and differentiate in neural tissues after human transplantation. Biol Blood Marrow Transplant. 2003;9:128–129
  65. Escolar ML, Poe MD, Provenzale JM, Richards KC, Allison J, Wood S, et al. Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. N Engl J Med. 2005;352:2069–2081
  66. Wynn RF, Wraith JE, Mercer J, O'Meara A, Tylee K, Thornley M, et al. Improved metabolic correction in patients with lysosomal storage disease treated with hematopoietic stem cell transplant compared with enzyme replacement therapy. J Pediatr. 2009;154:609–611
  67. Bergstrom SK, Quinn JJ, Greenstein R, Ascensao J. Long-term follow-up of a patient transplanted for Hunter's disease type IIB: a case report and literature review. Bone Marrow Transplant. 1994;14:653–658
  68. Coppa GV, Gabrielli O, Zampini L, Jetzequel AM, Miniero R, Busca A, et al. Bone marrow transplantation in Hunter syndrome. J Inherit Metab Dis. 1995;18:91–92
  69. 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
  70. Peters C, Krivit W. Hematopoietic cell transplantation for mucopolysaccharidosis IIB (Hunter syndrome). Bone Marrow Transplant. 2000;25:1097–1099
  71. Vellodi A, Young E, Cooper A, Lidchi V, Winchester B, Wraith JE. Long-term follow-up following bone marrow transplantation for Hunter disease. J Inherit Metab Dis. 1999;22:638–648
  72. Mullen CA, Thompson JN, Richard LA, Chan KW. Unrelated umbilical cord blood transplantation in infancy for mucopolysaccharidosis type IIB (Hunter syndrome) complicated by autoimmune hemolytic anemia. Bone Marrow Transplant. 2000;25:1093
  73. Gungor N, Tuncbilek E. Sanfilippo disease type B (A case report and review of the literature on recent advances in bone marrow transplantation). Turkish J Pediatr. 1995;37:157–163
  74. Vellodi A, Young E, New M, Pot-Mees C, Hugh-Jones K. Bone marrow transplantation for Sanfilippo disease type B. J Inherit Metab Dis. 1992;15:911–918
  75. Herskhovitz E, Young E, Rainer J, Hall CM, Lidchi V, Chong K, et al. Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): long-term follow-up. J Inherit Metab Dis. 1999;22:50–62
  76. Lee V, Li CK, Shing MM, et al. Umbilical cord blood transplantation for Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Bone Marrow Transplant. 2000;26:455–458
  77. Messina C, Rampazzo A, Cesaro S, Monciotti C, Gasparotto N, Tomanin R, et al. Eighteen-year follow-up of the first Italian MPSI patient treated with bone marrow transplantation. Bone Marrow Transplant. 2008;41:905–906
  78. McKinnis EJ, Sulzbacher S, Rutledge JC, Sanders J, Scott CR. Bone marrow transplantation in Hunter syndrome. J Pediatr. 1996;129:145–148
  79. Warkentin PI, Dixon MS, Schafer I, Strandjord SE, Coccia PF. Bone marrow transplantation in Hunter syndrome: a preliminary report. Birth Defects. 1986;22:31–39
  80. Lakshminarayanan S, Szabolcs P, Prasad VK, Parikh S, Allison J, Wood SJ, et al. Transplant outcomes and stabilization of neurological function in young children with MPS III (Sanfilippo syndrome) after unrelated donor umbilical cord blood transplantation [abstract]. ASH Annual Meeting Abstracts. 2005;106:2050
  81. Desai S, Hobbs JR, Hugh-Jones K, Williamson S, Barnes S, Kendra J, et al. Morquio's disease (mucopolysaccharidosis type IV) treated by bone marrow transplant. Exp Hematol. 1983;11:98–100
  82. Yabe H, Kato S. [Result of allogeneic bone marrow transplantation from unrelated donor]. Rinsho Ketsueki Jpn J Clin Hematol. 1990;31:614–619
  83. McGovern MM, Ludman MD, Short MP, Steinfeld L, Kattan M, Raab EL, et al. Bone marrow transplantation in Maroteaux-Lamy syndrome (MPS type 6): status 40 months after BMT. Birth Defects. 1986;22:41–53
  84. Yamada Y, Kato K, Sukegawa K, Tomatsu S, Fukuda S, Emura S, 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

PII: S0037-1963(09)00139-5

doi: 10.1053/j.seminhematol.2009.10.008

Seminars in Hematology
Volume 47, Issue 1 , Pages 59-69 , January 2010

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