title: Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndrome.
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.
authors.affiliation: Department of Paediatrics, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: J
authors.initials: J
authors.lastname: Cox-Brinkman
authors.forename: J-J
authors.initials: JJ
authors.lastname: Boelens
authors.forename: J E
authors.initials: JE
authors.lastname: Wraith
authors.forename: A
authors.initials: A
authors.lastname: O'meara
authors.forename: P
authors.initials: P
authors.lastname: Veys
authors.forename: F A
authors.initials: FA
authors.lastname: Wijburg
authors.forename: N
authors.initials: N
authors.lastname: Wulffraat
authors.forename: R F
authors.initials: RF
authors.lastname: Wynn
mesh_terms: D002675:Child, Preschool; D003131:Combined Modality Therapy / Q000379:methods; D005500:Follow-Up Studies; D006086:Graft vs Host Disease / Q000175:diagnosis / Q000628:therapy; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007068:Iduronidase / Q000008:administration & dosage / Q000627:therapeutic use*; D007223:Infant; D008059:Mucopolysaccharidosis I / Q000175:diagnosis / Q000628:therapy*; D011994:Recombinant Proteins / Q000008:administration & dosage / Q000627:therapeutic use; D016896:Treatment Outcome
chemical_list: D011994:Recombinant Proteins; D007068:Iduronidase