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.

  • Original Article
  • Published:

Non Malignant Diseases

The controversial and changing role of haematopoietic cell transplantation for lysosomal storage disorders: an update

Abstract

Haematopoietic cell transplantation (HCT) can benefit some selected subsets of patients with lysosomal diseases. Results had been impressive in children with MPS I-H, but poor in other disorders. Careful, multidisciplinary decision-making regarding whether to recommend HCT and how to provide optimal pre- and post-HCT care has proven essential to increase the likelihood of a good outcome.

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

Access options

Buy this article

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

Similar content being viewed by others

References

  1. Vellodi A . Lysosomal storage disorders. Br J Haematol 2004; 128: 413–431.

    Article  Google Scholar 

  2. Beck M . New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy. Hum Genet 2007; 121: 1–22.

    Article  CAS  PubMed  Google Scholar 

  3. Proia RL, Wu YP . Blood to brain to the rescue. J Clin Invest 2004; 113: 1108–1110.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. 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.

    Article  CAS  PubMed  Google Scholar 

  5. Rovelli AM, Steward CG . Hematopoietic stem cell transplantation activity in Europe for inherited metabolic diseases: open issues and future directions. Bone Marrow Transplant 2005; 35: S23–S26.

    Article  PubMed  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. Blood 1998; 91: 2601–2608.

    CAS  PubMed  Google Scholar 

  8. 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  PubMed  Google Scholar 

  9. 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. New Engl J Med 2004; 350: 1960–1969.

    Article  CAS  PubMed  Google Scholar 

  10. Escolar ML, Poe M, Provenzale JM, Richards KC, Allison J, Wood S et al. Transplantation of umbilical cord-blood in babies with infantile Krabbe's disease. New Engl J Med 2005; 352: 2069–2081.

    Article  CAS  PubMed  Google Scholar 

  11. Pastores GM, Arn P, Beck M, Clarke JTR, Guffon N, Kaplan P et al. The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with mucopolysaccharidosis type I. Mol Genet Metab 2007; 91: 37–47.

    Article  CAS  PubMed  Google Scholar 

  12. Boelens JJ, Wynn RF, O’Meara A, Veys P, Bertrand Y, Souillet G et al. Outcomes of haematopietic cell transplantation for MPS-I in Europe: a risk factor analysis for graft-failure. Bone Marrow Transplant 2007; 40: 225–233.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  13. Martin PL, Carter SL, Kernan NA, Sabdev I, Wall D, Pyetriga 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  PubMed  Google Scholar 

  14. 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.

    Article  CAS  PubMed  Google Scholar 

  15. 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.

    Article  CAS  PubMed  Google Scholar 

  16. Martin HP, Poe MD, Szabolcs P, Martin P, Subag P, Vinod P et al. Neurodevelopmental outcomes of unrelated umbilical cord transplantation for metachromatic leukodystrophy. Biol Blood Marrow Transplant 2007; 13 (Suppl S): 63 (abstract 168).

    Article  Google Scholar 

  17. Biffi A, De Palma M, Quattrini A, Del Carro U, Amadio S, Visigalli I et al. Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells. J Clin Invest 2004; 113: 1118–1129.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  18. 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.

    Article  CAS  PubMed  Google Scholar 

  19. Horwitz EM, Gordon PL, Koo WK, Marx JC, Neel MD, McNall RY et al. Isolated allogeneic bone marrow-derived mesenchymal cells engraft and stimulate growth in children with osteogenesis imperfecta: implications for cell therapy of bone. Proc Natl Acad Sci 2002; 99: 8932–8937.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to A M Rovelli.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Rovelli, A. The controversial and changing role of haematopoietic cell transplantation for lysosomal storage disorders: an update. Bone Marrow Transplant 41 (Suppl 2), S87–S89 (2008). https://doi.org/10.1038/bmt.2008.62

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/bmt.2008.62

Keywords

This article is cited by

Search

Quick links