title: Treatment of mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: the relevance of clinical trial end points.
abstract: The current treatment of mucopolysaccharidosis type II (MPS II, Hunter syndrome) is enzyme replacement therapy with recombinant idursulfase (Elaprase®). The efficacy of ERT was established based primarily on reduction in urine glycosaminoglycans:creatinine (GAG:Cr) ratio and improvement in a composite score of predicted forced vital capacity (FVC% predicted) and 6-min walk-test distance (6MWT). We retrospectively reviewed these parameters in 11 boys with MPS II treated with idursulfase between April 2007 (or the time of diagnosis) and February 2010. Some results were inconsistent with published trial data, and there was only a small number of analyzable results obtained for the FVC% predicted and 6MWT. A major drawback was the high prevalence of neurological involvement and young age of patients in the study cohort compared with the clinical trials. This study emphasizes the limitations of the current tools utilized to monitor ERT efficacy and MPS II disease burden in clinical practice.
authors.affiliation: Metabolic Department, 5th floor, Southwood Building, Great Ormond Street Hospital for Children, London WC1N 3JH, United Kingdom. glamue@gosh.nhs.uk
authors.forename: Emma
authors.initials: E
authors.lastname: Glamuzina
authors.forename: Emma
authors.initials: E
authors.lastname: Fettes
authors.forename: Katie
authors.initials: K
authors.lastname: Bainbridge
authors.forename: Victoria
authors.initials: V
authors.lastname: Crook
authors.forename: Niamh
authors.initials: N
authors.lastname: Finnegan
authors.forename: Lara
authors.initials: L
authors.lastname: Abulhoul
authors.forename: Ashok
authors.initials: A
authors.lastname: Vellodi
mesh_terms: D002648:Child; D002675:Child, Preschool; D002986:Clinical Trials as Topic / Q000379:methods; D017322:Clinical Trials, Phase II as Topic; D017326:Clinical Trials, Phase III as Topic; D023381:Endpoint Determination / Q000379:methods*; D056947:Enzyme Replacement Therapy; D006801:Humans; D007066:Iduronate Sulfatase / Q000627:therapeutic use*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D016532:Mucopolysaccharidosis II / Q000175:diagnosis* / Q000188:drug therapy*; D011379:Prognosis; D012107:Research Design; D012189:Retrospective Studies; D016896:Treatment Outcome
chemical_list: D007066:Iduronate Sulfatase; C517982:idursulfase