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Blood. 2015 Mar 26;125(13):2164-72. doi: 10.1182/blood-2014-11-608075. Epub 2015 Jan 26.

Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study.

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Blood and Marrow Transplantation Program, Department of Pediatrics, University Medical Center Utrecht, Utrecht, The Netherlands;
Blood and Marrow Transplant Unit, Royal Manchester Children's Hospital, Manchester, United Kingdom;
Program in Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN;
Department of Hematology and Bone Marrow Transplantation, Our Lady's Children's Hospital, Dublin, Ireland;
Blood and Marrow Transplantation Program, Great Ormond Street Hospital for Children National Health Service Trust, London, United Kingdom;
Département de Biothérapie and.
Reference Center for Inherited Metabolic Diseases and Imagine Institute, Assistance Publique-Hopiteaux de Paris, Hôpital Universitaire Necker-Enfants Malades, Paris, France;
Pediatric Bone Marrow Transplant Unit, Department of Pediatrics, San Gerardo University Hospital, Monza, Italy;
The Pediatric Blood and Marrow Transplant Program, Duke University, Durham, NC;
Willink Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals, University of Manchester, Manchester, United Kingdom;
Rare Metabolic Disorders Unit, Department of Pediatrics, San Gerardo University Hospital, Monza, Italy;
Pediatric Hematology and Oncology, University Hospital Leuven, Leuven, Belgium;
Pediatric Hematology and Oncology, Ghent University Hospital, Ghent, Belgium;
Department of Pediatric Immunology and Rheumatology, University Medical Center Utrecht, Utrecht, The Netherlands;
University Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands; and.
Department of Pediatrics and Neurology, Division of Clinical Behavioral Neuroscience, University of Minnesota, Minneapolis, MN.


Mucopolysaccharidosis type I-Hurler syndrome (MPS-IH) is a lysosomal storage disease characterized by multisystem morbidity and death in early childhood. Although hematopoietic cell transplantation (HCT) has been performed in these patients for more than 30 years, large studies on the long-term outcome of patients with MPS-IH after HCT are lacking. The goal of this international study was to identify predictors of the long-term outcome of patients with MPS-IH after successful HCT. Two hundred seventeen patients with MPS-IH successfully engrafted with a median follow-up age of 9.2 years were included in this retrospective analysis. Primary endpoints were neurodevelopmental outcomes and growth. Secondary endpoints included neurologic, orthopedic, cardiac, respiratory, ophthalmologic, audiologic, and endocrinologic outcomes. Considerable residual disease burden was observed in the majority of the transplanted patients with MPS-IH, with high variability between patients. Preservation of cognitive function at HCT and a younger age at transplantation were major predictors for superior cognitive development posttransplant. A normal α-l-iduronidase enzyme level obtained post-HCT was another highly significant predictor for superior long-term outcome in most organ systems. The long-term prognosis of patients with MPS-IH receiving HCT can be improved by reducing the age at HCT through earlier diagnosis, as well as using exclusively noncarrier donors and achieving complete donor chimerism.

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