Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome

Research output: Contribution to journalArticlepeer-review

43 Scopus citations


Objective: To investigate whether intravenous enzyme replacement therapy (ERT) benefits cognitive function in patients with mucopolysaccharidosis type IH (Hurler syndrome) undergoing hematopoietic cell transplantation (HCT). Study design: Data were obtained for 9 children treated with HCT + ERT (ERT group) and 10 children treated with HCT only (no-ERT group) from neuropsychologic evaluations before HCT and at 1-year and 2-year post-HCT follow-up. Results: At 2 years after HCT, children in the ERT group lost 9.19 fewer IQ points per year compared with children in the no-ERT group (P = .031). Furthermore, the ERT group improved in nonverbal problem solving and processing, whereas the no-ERT group declined, resulting in a difference of 9.44 points per year between the 2 groups (P < .001). Conclusion: ERT in association with HCT enhances cognitive outcomes, providing new evidence that ERT is a valuable addition to the standard transplantation protocol. Although the mechanism responsible for this improved outcome is unknown, both direct benefits and indirect effects must be considered.

Original languageEnglish (US)
Pages (from-to)375-380.e1
JournalJournal of Pediatrics
Issue number2
StatePublished - Feb 2013


  • CNS
  • Central nervous system
  • CsA
  • Cyclosporine
  • ELC
  • ERT
  • Early Learning Composite
  • Enzyme replacement therapy
  • HCT
  • Hematopoietic cell transplantation
  • IV
  • Intravenous
  • MPS
  • Mucopolysaccharidosis

Fingerprint Dive into the research topics of 'Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome'. Together they form a unique fingerprint.

Cite this