Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Review
  • Published:

Emerging trends in transplantation of inherited metabolic diseases

Bone Marrow Transplantation volume 41, pages 99–108 (2008)Cite this article

Abstract

Allogeneic hematopoietic stem cell transplantation (HSCT) can prolong life and improve its quality in patients with inherited metabolic diseases. HSCT offers a permanent source of enzyme replacement therapy and also might mediate nonhematopoietic cell regeneration or repair. Unrelated cord blood is an exciting newer graft source for treatment of patients with these fatal disorders, providing increased access to donors and significant clinical efficacy, particularly when transplantation is performed in early stages. Pre-transplant performance status is highly predictive of overall survival.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Figure 1
Figure 2
Figure 3
Figure 4
Figure 5
Figure 6

Similar content being viewed by others

References

  1. Boelens JJ . Trends in haematopoietic cell transplantation for inborn errors of metabolism. J Inherit Metab Dis 2006; 29: 413–420.

    Article  Google Scholar 

  2. 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.

    Article  CAS  Google Scholar 

  3. Krivit W . Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases. Springer Semin Immunopathol 2004; 26: 119–132.

    Article  Google Scholar 

  4. Meikle PJ, Hopwood JJ . Lysosomal storage disorders: emerging therapeutic options require early diagnosis. Eur J Pediatr 2003; 162 (Suppl 1): S34–S37.

    Article  Google Scholar 

  5. Orchard PJ, Blazar BR, Wagner J, Charnas L, Krivit W, Tolar J . Hematopoietic cell therapy for metabolic disease. J Pediatr 2007; 151: 340–346.

    Article  Google Scholar 

  6. 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.

    CAS  PubMed  Google Scholar 

  7. Peters C, Shapiro EG, Anderson J, Henslee-Downey PJ, Klemperer MR, Cowan MJ et al. Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group. Blood 1998; 91: 2601–2608.

    CAS  PubMed  Google Scholar 

  8. 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.

    Article  CAS  Google Scholar 

  9. 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.

    Article  Google Scholar 

  10. Vellodi A . Lysosomal storage disorders. Br J Haematol 2005; 128: 413–431.

    Article  CAS  Google Scholar 

  11. 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.

    Article  CAS  Google Scholar 

  12. 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.

    Article  Google Scholar 

  13. 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.

    Article  CAS  Google Scholar 

  14. Beam D, Poe MD, Provenzale JM, Szabolcs P, Martin PL, Prasad V et al. Outcomes of unrelated umbilical cord blood transplantation for x-linked adrenoleukodystrophy. Biol Blood Marrow Transplant 2007; 13: 665–674.

    Article  Google Scholar 

  15. 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.

    Article  CAS  Google Scholar 

  16. Gluckman E, Rocha V, Chastang C . Cord blood banking and transplant in Europe. Eurocord Vox Sang 1998; 74 (Suppl 2): 95–101.

    Article  CAS  Google Scholar 

  17. 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.

    Article  CAS  Google Scholar 

  18. Fratantoni JC, Hall CW, Neufeld EF . Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science 1968; 162: 570–572.

    Article  CAS  Google Scholar 

  19. Ferrante ND, Nichols BL, Donnelly PV, Neri G, Hrgovcic R, Berglund RK . Induced degradation of glycosaminoglycans in Hurler's and Hunter's syndromes by plasma infusion. Proc Natl Acad Sci USA 1971; 68: 303–307.

    Article  Google Scholar 

  20. Knudson AG, Ferrante ND, Curtis JE . Effect of leukocyte transfusion in a child with Type II mucopolysaccharidosis. Proc Natl Acad Sci USA 1971; 68: 1738–1741.

    Article  Google Scholar 

  21. Walkley SU, Thrall MA, Dobrenis K, Huang M, March PA, Siegel DA et al. Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease. Proc Natl Acad Sci USA 1994; 91: 2970–2974.

    Article  CAS  Google Scholar 

  22. Taylor RM, Wolfe JH . Decreased lysosomal storage in the adult MPS VII mouse brain in the vicinity of grafts of retroviral vector-corrected fibroblasts secreting high levels of beta-glucuronidase. Nat Med 1997; 3: 771–774.

    Article  CAS  Google Scholar 

  23. Passini MA, Lee EB, Heuer GG, Wolfe JH . Distribution of a lysosomal enzyme in the adult brain by axonal transport and by cells of the rostral migratory stream. J Neurosci 2002; 22: 6437–6446.

    Article  CAS  Google Scholar 

  24. 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; 200: 123–135.

    Article  Google Scholar 

  25. Cogle CR, Yachnis AT, Laywell ED, Zander DS, Wingard JR, Steindler DA et al. Bone marrow transdifferentiation in brain after transplantation: a retrospective study. Lancet 2004; 363: 1432–1437.

    Article  CAS  Google Scholar 

  26. 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.

    Article  CAS  Google Scholar 

  27. 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.

    Article  CAS  Google Scholar 

  28. 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.

    Article  Google Scholar 

  29. 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.

    Article  CAS  Google Scholar 

  30. 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.

    Article  CAS  Google Scholar 

  31. Provenzale JM, Escolar M, Kurtzberg J . Quantitative analysis of diffusion tensor imaging data in serial assessment of Krabbe disease. Ann NY Acad Sci 2005; 1064: 220–229.

    Article  Google Scholar 

  32. Guo AC, Petrella JR, Kurtzberg J, Provenzale JM . Evaluation of white matter anisotropy in Krabbe disease with diffusion tensor MR imaging: initial experience. Radiology 2001; 218: 809–815.

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. The Pediatric Blood and Marrow Transplant Program, Duke University Medical Center, Durham, NC, USA

    V K Prasad & J Kurtzberg

Authors
  1. V K Prasad
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. J Kurtzberg
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to V K Prasad.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Prasad, V., Kurtzberg, J. Emerging trends in transplantation of inherited metabolic diseases. Bone Marrow Transplant 41, 99–108 (2008). https://doi.org/10.1038/sj.bmt.1705970

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/sj.bmt.1705970

Keywords

This article is cited by

Search

Advanced search

Quick links