Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10 year combined experience of 2 centres

Arunabha Ghosh, Weston Miller, Paul J Orchard, Simon A. Jones, Jean Mercer, Heather J. Church, Karen Tylee, Troy Lund, Brian W. Bigger, Jakub Tolar, Robert F. Wynn

Research output: Contribution to journalArticlepeer-review

38 Scopus citations

Abstract

Haematopoietic stem cell transplantation is the treatment of choice for the severe form of Mucopolysaccharidosis Type I, or Hurler syndrome. In many centres standard practice is to deliver enzyme replacement therapy alongside haematopoietic stem cell transplantation to improve the condition of the patient prior to transplant. We report the combined 10 year experience of this approach in two paediatric metabolic and transplant centres. Of 81 patients who underwent a first transplant procedure for Hurler, 88% (71/81) survived and 81% (66/81) were alive and engrafted at a median follow-up of 46 months (range 3-124 months). The incidence of grade II-IV acute and any chronic graft versus host disease was 17% and 11% respectively. Urinary glycosaminoglycans were significantly reduced after a period of enzyme replacement therapy, and further reductions were seen at 13-24 months and 25. + months after transplantation. In several individuals with decreased cardiac contractility, an improvement of their condition during enzyme replacement therapy enabled them to undergo transplantation, with one individual receiving full intensity conditioning.

Original languageEnglish (US)
Pages (from-to)373-377
Number of pages5
JournalMolecular Genetics and Metabolism
Volume117
Issue number3
DOIs
StatePublished - Mar 1 2016

Bibliographical note

Funding Information:
Dr. Jones reports grants, personal fees and non-financial support from Genzyme Corporation, grants, personal fees and non-financial support from Biomarin Pharmaceutical, grants, personal fees and non-financial support from Shire Plc, grants, personal fees and non-financial support from Ultragenyx Pharmaceutical, grants, personal fees and non-financial support from PTC Therapeutics, grants, personal fees and non-financial support from Alexion Pharmaceuticals, outside the submitted work.

Keywords

  • Enzyme replacement therapy
  • Haematopoietic stem cell transplantation
  • Hurler syndrome
  • Mucopolysaccharidosis type i
  • Outcome

Fingerprint Dive into the research topics of 'Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10 year combined experience of 2 centres'. Together they form a unique fingerprint.

Cite this