The first 5years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I

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Abstract
Mucopolysaccharidosis I (MPS I, McKusick 25280) is caused by the deficiency or absence of the lysosomal enzyme, α-L-iduronidase (EC 3.2.1.76). This inherited disease causes progressive cellular, tissue and organ damage across the entire phenotypic spectrum. Disabling, multi-organ disease is the rule, and generally results in death between the first and fourth decades of life. Recently, laronidase (Aldurazyme® [Genzyme], a specific recombinant human α-L-iduronidase) became commercially available as long-term enzyme replacement therapy. Results from the Phase I/II and III extended clinical studies have shown that laronidase safely and effectively alleviates many systemic signs and symptoms of this progressive multisystemic disease. Clinically meaningful and sustained improvements in pulmonary function and functional capacity have been observed in Phase III study patients. Significant and sustained reductions in urinary glysosaminoglycan (GAG) excretion and hepatomegaly have also been observed. Improvements ...