title: Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study.
abstract: OBJECTIVE
  To determine the effectiveness of enzyme replacement therapy (ERT) for adults with late-onset Pompe disease.
  
  
  METHODS
  A longitudinal cohort study including prospective and retrospective clinical outcome data. Age- and gender-adjusted treatment effects were estimated using generalised linear mixed models. Treated patients contributed data before and during treatment. Untreated patients contributed natural history data.
  
  
  METHODS
  Consenting adults (N = 62) with a diagnosis of late-onset Pompe disease who attended a specialist treatment centre in England. This cohort represented 83 % of all patients in the UK with a confirmed diagnosis of this rare condition. At study entry, all but three patients were receiving ERT (range of treatment duration, 0 to 3.1 years).
  
  
  METHODS
  Percent predicted forced vital capacity (%FVC); ventilation dependency; mobility; 6 min walk test (6MWT); muscle strength and body mass index (BMI).
  
  
  RESULTS
  An association was found between time on ERT and significant increases in the distance walked in the 6MWT (p < 0.001) and muscle strength scores (p < 0.001). Improvements in both these measures were seen over the first 2 years of treatment with ERT. No statistically significant relationship was found between time on ERT and respiratory function or in BMI.
  
  
  CONCLUSIONS
  These data provide some further evidence of the effectiveness of ERT in adults with late-onset Pompe disease.
  
  
  CONCLUSIONS
  The results of this longitudinal cohort study of 62 adults with late-onset Pompe disease, provide further evidence on the effectiveness of ERT in this rare condition.
authors.affiliation: Institute of Health Research, University of Exeter Medical School, Veysey Building, Salmon Pool Lane, Exeter, Devon, EX2 4SG, UK, l.j.anderson@exeter.ac.uk.
authors.forename: L J
authors.initials: LJ
authors.lastname: Anderson
authors.forename: W
authors.initials: W
authors.lastname: Henley
authors.forename: K M
authors.initials: KM
authors.lastname: Wyatt
authors.forename: V
authors.initials: V
authors.lastname: Nikolaou
authors.forename: S
authors.initials: S
authors.lastname: Waldek
authors.forename: D A
authors.initials: DA
authors.lastname: Hughes
authors.forename: R H
authors.initials: RH
authors.lastname: Lachmann
authors.forename: S
authors.initials: S
authors.lastname: Logan
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D015992:Body Mass Index; D004739:England; D056947:Enzyme Replacement Therapy / Q000379:methods*; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000188:drug therapy*; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D053580:Muscle Strength; D011446:Prospective Studies; D012189:Retrospective Studies; D016896:Treatment Outcome; D016138:Walking; D055815:Young Adult