Abstract
Hurler syndrome (MPS 1H) is the severe form of mucopolysaccharidosis type 1 (MPS 1). Haematopoietic cell transplantation (HCT) is the treatment of choice, but carries a high incidence of graft failure and morbidity. The use of enzyme replacement therapy (ERT) might improve the clinical signs and symptoms before HCT, resulting in less transplantation-related complications. Moreover, clearance of glycosaminoglycans (GAG's) from the bone marrow might improve engraftment. Twenty-two patients with MPS 1H received one or more HCT procedures in combination with ERT. One patient with severe cardiomyopathy improved significantly after ERT. All children were in a relatively good clinical condition before HCT. Of patients 59, 82 and 86% were alive and engrafted after one, two and three HCT procedures, respectively. Two patients died after repetitive HCT. No serious ERT-infusion-related toxicity occurred. ERT with HCT was well tolerated. Neither a positive nor a negative effect on the number of patients who are alive and engrafted after receiving ERT before HCT as compared to a historic cohort was noted. However, patients in a poor clinical condition before HCT might benefit from ERT.
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Acknowledgements
We thank our collaborators for sharing their patient information: Drs Pierre Bordigoni and Alexandra Salmon (Nancy, France), Mary Coussons (Data manager Manchester, UK), Dr Claudia Haase (Jena, Germany) and Dr Gunilla Malm (Karolinska, Huddinge, Sweden). The Dutch Health Care Insurance Board (CVZ) is acknowledged for partial funding of the study.
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Cox-Brinkman, J., Boelens, JJ., Wraith, J. et al. Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndrome. Bone Marrow Transplant 38, 17–21 (2006). https://doi.org/10.1038/sj.bmt.1705401
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DOI: https://doi.org/10.1038/sj.bmt.1705401
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