The Journal of Pediatrics
Volume 151, Issue 4 , Pages 340-346 , October 2007

Hematopoietic Cell Therapy for Metabolic Disease

  • Paul J. Orchard, MD

      Affiliations

    • Division of Hematology/Oncology and Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, MN
    • Corresponding Author InformationReprint requests: Paul J. Orchard, MD, Program in Blood and Marrow Transplantation, Cancer Center Research Building-Suite 660, MMC 366, University of Minnesota, 420 Delaware St SE, Minneapolis, MN 55455.
    • ,
  • Bruce R. Blazar, MD

      Affiliations

    • Division of Hematology/Oncology and Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, MN
    • ,
  • John Wagner, MD

      Affiliations

    • Division of Hematology/Oncology and Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, MN
    • ,
  • Lawrence Charnas, MD, PhD

      Affiliations

    • Division of Pediatric Clinical Neuroscience, Department of Pediatrics, University of Minnesota, Minneapolis, MN.
    • ,
  • William Krivit, MD, PhD

      Affiliations

    • Deceased.
    • Division of Hematology/Oncology and Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, MN
    • ,
  • Jakub Tolar, MD, PhD

      Affiliations

    • Division of Hematology/Oncology and Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, MN

Received 10 November 2006 ,Revised 26 March 2007 ,Accepted 23 April 2007.

References 

  1. De Duve C, Pressman BC, Gianetto R, Wattiaux R, Appelmans F. Tissue fractionation studies (6. Intracellular distribution patterns of enzymes in rat-liver tissue). Biochem J. 1955;60:604–617
  2. Weibel TD, Brady RO. Systematic approach to the diagnosis of lysosomal storage disorders. Ment Retard Dev Disabil Res Rev. 2001;7:190–199
  3. Gieselmann V. What can cell biology tell us about heterogeneity in lysosomal storage diseases?. Acta Paediatr Suppl. 2005;94:80–86discussion 79
  4. Vellodi A. Lysosomal storage disorders. Br J Haematol. 2005;128:413–431
  5. Wenger DA, Coppola S, Liu SL. Insights into the diagnosis and treatment of lysosomal storage diseases. Arch Neurol. 2003;60:322–328
  6. Desnick RJ. Enzyme replacement and enhancement therapies for lysosomal diseases. J Inherit Metab Dis. 2004;27:385–410
  7. Pastores GM, Barnett NL. Substrate reduction therapy: miglustat as a remedy for symptomatic patients with Gaucher disease type 1. Expert Opin Investig Drugs. 2003;12:273–281
  8. Mahmood A, Dubey P, Moser HW, Moser A. X-linked adrenoleukodystrophy: therapeutic approaches to distinct phenotypes. Pediatr Transplant. 2005;9:55–62
  9. Hasilik A, Neufeld EF. Biosynthesis of lysosomal enzymes in fibroblasts: phosphorylation of mannose residues. J Biol Chem. 1980;255:4946–4950
  10. Fischer HD, Gonzalez-Noriega A, Sly WS, Morre DJ. Phosphomannosyl-enzyme receptors in rat liver (Subcellular distribution and role in intracellular transport of lysosomal enzymes). J Biol Chem. 1980;255:9608–9615
  11. Brady RO. Enzyme replacement for lysosomal diseases. Annu Rev Med. 2006;57:283–296
  12. Fratantoni JC, Hall CW, Neufeld EF. Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science. 1968;162:570–572
  13. Krivit W, Sung JH, Shapiro EG, Lockman LA. Microglia: the effector cell for reconstitution of the central nervous system following bone marrow transplantation for lysosomal and peroxisomal storage diseases. Cell Transplant. 1995;4:385–392
  14. Wraith JE. Clinical aspects and diagnosis. In:  Platt FM,  Walkley SU editor. Lysosomal disorders of the brain. New York: Oxford University Press; 2004;p. 50–77
  15. Braunlin EA, Stauffer NR, Peters CH, Bass JL, Berry JM, Hopwood JJ, et al. Usefulness of bone marrow transplantation in the Hurler syndrome. Am J Cardiol. 2003;92:882–886
  16. 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
  17. 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;2:709–712
  18. 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
  19. Peters C, Shapiro EG, Krivit W. Neuropsychological development in children with Hurler syndrome following hematopoietic stem cell transplantation. Pediatr Transplant. 1998;2:250–253
  20. 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
  21. 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
  22. Grewal SS, Wynn R, Abdenur JE, Burton BK, Gharib M, Haase C, et al. Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome. Genet Med. 2005;7:143–146
  23. 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
  24. Koc ON, Peters C, Aubourg P, Raghavan S, Dyhouse S, DeGasperi R, et al. Bone marrow-derived mesenchymal stem cells remain host-derived despite successful hematopoietic engraftment after allogeneic transplantation in patients with lysosomal and peroxisomal storage diseases. Exp Hematol. 1999;27:1675–1681
  25. Peters C, Krivit W. Hematopoietic cell transplantation for mucopolysaccharidosis IIB (Hunter syndrome). Bone Marrow Transplant. 2000;25:1097–1099
  26. Klein KA, Krivit W, Whitley CB, Peters C, Cool VA, Fuhrman M, et al. Poor cognitive outcome of eleven children with Sanfilippo syndrome after bone marrow transplantation and successful engraftment. Bone Marrow Transplant. 1995;15:S176–S181
  27. Krivit W. Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases. Springer Semin Immunopathol. 2004;26:119–132
  28. Peters C, Charnas LR, Tan Y, Ziegler RS, Shapiro EG, DeFor T, et al. Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. Blood. 2004;104:881–888
  29. Powers JM, Moser HW, Moser AB, Ma CK, Elias SB, Norum RA. Pathologic findings in adrenoleukodystrophy heterozygotes. Arch Pathol Lab Med. 1987;111:151–153
  30. Loes DJ, Fatemi A, Melhem ER, Gupte N, Bezman L, Moser HW, et al. Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy. Neurology. 2003;61:369–374
  31. 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
  32. Krivit W, Shapiro EG, Peters C, Wagner JE, Cornu G, Kurtzberg J, et al. Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy. N Engl J Med. 1998;338:1119–1126
  33. Krivit W. Metachromatic Leukodystrophy. In:  Zimran A editors. Glycolipid storage disorders. Abingdon, United Kingdom: Adis Communications; 2004;p. 91–100
  34. Krivit W, Peters C, Dusenbery K, Ben-Yoseph Y, Ramsay NK, Wagner JE, et al. Wolman disease successfully treated by bone marrow transplantation. Bone Marrow Transplant. 2000;26:567–570
  35. Grewal S, Shapiro E, Braunlin E, Charnas L, Krivit W, Orchard P, et al. Continued neurocognitive development and prevention of cardiopulmonary complications after successful BMT for I-cell disease: a long-term follow-up report. Bone Marrow Transplant. 2003;32:957–960
  36. Grewal SS, Shapiro EG, Krivit W, Charnas L, Lockman LA, Delaney KA, et al. Effective treatment of alpha-mannosidosis by allogeneic hematopoietic stem cell transplantation. J Pediatr. 2004;144:569–573
  37. Walkley SU, Suzuki K. Consequences of NPC1 and NPC2 loss of function in mammalian neurons. Biochim Biophys Acta. 2004;1685:48–62
  38. Hsu YS, Hwu WL, Huang SF, Lu MY, Chen RL, Lin DT, et al. Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation. Bone Marrow Transplant. 1999;24:103–107
  39. Lake BD, Steward CG, Oakhill A, Wilson J, Perham TG. Bone marrow transplantation in late infantile Batten disease and juvenile Batten disease. Neuropediatrics. 1997;28:80–81
  40. Pittenger MF, Mackay AM, Beck SC, Jaiswal RK, Douglas R, Mosca JD, et al. Multilineage potential of adult human mesenchymal stem cells. Science. 1999;284:143–147
  41. Reyes M, Verfaillie CM. Characterization of multipotent adult progenitor cells, a subpopulation of mesenchymal stem cells. Ann N Y Acad Sci. 2001;938:231–233discussion 3-5
  42. Jiang Y, Jahagirdar BN, Reinhardt RL, Schwartz RE, Keene CD, Ortiz-Gonzalez XR, et al. Pluripotency of mesenchymal stem cells derived from adult marrow. Nature. 2002;418:41–49
  43. Song L, Tuan RS. Transdifferentiation potential of human mesenchymal stem cells derived from bone marrow. FASEB J. 2004;18:980–982
  44. Aggarwal S, Pittenger MF. Human mesenchymal stem cells modulate allogeneic immune cell responses. Blood. 2005;105:1815–1822
  45. Jiang Y, Vaessen B, Lenvik T, Blackstad M, Reyes M, Verfaillie CM. Multipotent progenitor cells can be isolated from postnatal murine bone marrow, muscle, and brain. Exp Hematol. 2002;30:896–904
  46. Koc ON, Day J, Nieder M, Gerson SL, Lazarus HM, Krivit W. Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH). Bone Marrow Transplant. 2002;30:215–222
  47. Koc ON, Gerson SL, Cooper BW, Dyhouse SM, Haynesworth SE, Caplan AI, et al. Rapid hematopoietic recovery after coinfusion of autologous-blood stem cells and culture-expanded marrow mesenchymal stem cells in advanced breast cancer patients receiving high-dose chemotherapy. J Clin Oncol. 2000;18:307–316
  48. Lazarus HM, Koc ON, Devine SM, Curtin P, Maziarz RT, Holland HK, et al. Cotransplantation of HLA-identical sibling culture-expanded mesenchymal stem cells and hematopoietic stem cells in hematologic malignancy patients. Biol Blood Marrow Transplant. 2005;11:389–398
  49. Jiang Y, Henderson D, Blackstad M, Chen A, Miller RF, Verfaillie CM. Neuroectodermal differentiation from mouse multipotent adult progenitor cells. Proc Natl Acad Sci U S A. 2003;100:11854–11860
  50. Zhao LR, Duan WM, Reyes M, Keene CD, Verfaillie CM, Low WC. Human bone marrow stem cells exhibit neural phenotypes and ameliorate neurological deficits after grafting into the ischemic brain of rats. Exp Neurol. 2002;174:11–20
  51. Le Blanc K, Rasmusson I, Sundberg B, Gotherstrom C, Hassan M, Uzunel M, et al. Treatment of severe acute graft-versus-host disease with third party haploidentical mesenchymal stem cells. Lancet. 2004;363:1439–1441
  52. Ellinwood NM, Vite CH, Haskins ME. Gene therapy for lysosomal storage diseases: the lessons and promise of animal models. J Gene Med. 2004;6:481–506
  53. Hartung SD, Frandsen JL, Pan D, Koniar BL, Graupman P, Gunther R, 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
  54. Liu Y, Xu L, Hennig AK, Kovacs A, Fu A, Chung S, et al. Liver-directed neonatal gene therapy prevents cardiac, bone, ear, and eye disease in mucopolysaccharidosis I mice. Mol Ther. 2005;11:35–47
  55. Hacein-Bey-Abina S, Von Kalle C, Schmidt M, McCormack MP, Wulffraat N, Leboulch P, et al. LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science. 2003;302:415–419
  56. von Kalle C, Baum C, Williams DA. Lenti in red: progress in gene therapy for human hemoglobinopathies. J Clin Invest. 2004;114:889–891
  57. Gelb MH, Turecek F, Scott CR, Chamoles NA. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. J Inherit Metab Dis. 2006;29:397–404
  58. Meikle PJ, Grasby DJ, Dean CJ, Lang DL, Bockmann M, Whittle AM, et al. Newborn screening for lysosomal storage disorders. Mol Genet Metab. 2006;88:307–314
  59. Meikle PJ, Ranieri E, Simonsen H, Rozaklis T, Ramsay SL, Whitfield PD, et al. Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy. Pediatrics. 2004;114:909–916
  60. Escolar ML, Poe MD, Martin HR, Kurtzberg J. A staging system for infantile Krabbe disease to predict outcome after unrelated umbilical cord blood transplantation. Pediatrics. 2006;118:e879–e889

 Supported in part by grants from an anonymous foundation, the Children’s Cancer Research Fund and the Bone Marrow Transplant Research Fund, National Institutes of Health Grant N01-HB-67139, P01-CA21737, NIH R01 HL49997, R01 HL55209, HL63452, and AI34495. In addition, we extend our appreciation to the National Marrow Donor Program (NMDP) for the information provided to us.

PII: S0022-3476(07)00400-3

doi: 10.1016/j.jpeds.2007.04.054

The Journal of Pediatrics
Volume 151, Issue 4 , Pages 340-346 , October 2007

Article Tools

* Image Usage & Resolution