Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome

J. Tolar, S. S. Grewal, K. J. Bjoraker, C. B. Whitley, E. G. Shapiro, L. Charnas, P. J. Orchard

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116 Scopus citations


Hurler syndrome (mucopolysaccharidosis type I, MPS IH) is characterized by a deficiency of α-L-iduronidase resulting in progressive multiorgan dysfunction. We sought to determine whether enzyme replacement therapy (ERT) with iduronidase in the peritransplant period affects outcome of hematopoietic stem cell transplantation (HSCT) for MPS IH. Seven children with MPS IH at a median age of 1.5 years at the time of myeloablative HSCT were eligible. All patients had null mutations in IDUA gene. Iduronidase (0.58 mg/kg per dose) was administered intravenously in 11-14 weekly doses before HSCT and 8 weekly doses after HSCT. The infusions were well tolerated. All patients developed antibodies to iduronidase but all engrafted with >90% donor hematopoiesis. A majority of patients had significant pulmonary complications before ERT and HSCT but all are alive and well with a median follow-up of more than 1 year after HSCT. This suggests that ERT prior to HSCT is unlikely to alter engraftment. In addition, morbidity was acceptable, despite a previous history of pulmonary difficulties that suggested that these patients were high risk for these complications. Therefore, we recommend treatment of MPS IH patients with combination of ERT and HSCT therapy to further investigate its potential to enhance outcomes with HSCT.

Original languageEnglish (US)
Pages (from-to)531-535
Number of pages5
JournalBone marrow transplantation
Issue number6
StatePublished - Mar 2008

Bibliographical note

Funding Information:
We thank Eileen Hanson and Teresa Kivisto for their dedication and persistence in the care of the families and in obtaining the necessary data. This study was supported by Children’s Cancer Research Fund, Minneapolis, MN, USA.


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