Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome.
Enzyme replacement therapy (ERT) with laronidase, recombinant alpha-L-iduronidase, for mucopolysaccharidosis type I (MPS I) has been clinically available since April 2003. Pre-approval studies were performed on patients with the more attenuated forms of MPS I, Hurler-Scheie and Scheie syndromes. The clinical efficacy of laronidase on the severe form of MPS I, Hurler syndrome, is not well known. We present a patient with Hurler syndrome who has been treated with laronidase for 3 years. Clinically, the patient demonstrated improvement in urinary glycosaminoglycan (GAG) levels and hepatomegaly, but continued to experience decline in respiratory status, musculoskeletal and spinal involvement, and developmental skills. Overall, the benefit of ERT with laronidase in advanced Hurler syndrome appeared to be minimal in this patient.
Thomas
J A
JA
Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado and The Children's Hospital, Denver, Colorado, USA. thomas.janet@tchden.org
Jacobs
S
S
Kierstein
J
J
Van Hove
J
J
D018450:Disease Progression; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D007068:Iduronidase / Q000627:therapeutic use*; D008059:Mucopolysaccharidosis I / Q000188:drug therapy*; D013997:Time Factors; D016896:Treatment Outcome
D006025:Glycosaminoglycans; D007068:Iduronidase