title: Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study.
abstract: BACKGROUND
  Pompe disease is a rare metabolic myopathy for which disease-specific enzyme replacement therapy (ERT) has been available since 2006. ERT has shown efficacy concerning muscle strength and pulmonary function in adult patients. However, no data on the effect of ERT on the survival of adult patients are currently available. The aim of this study was to assess the effect of ERT on survival in adult patients with Pompe disease.
  
  
  METHODS
  Data were collected as part of an international observational study conducted between 2002 and 2011, in which patients were followed on an annual basis. Time-dependent Cox's proportional hazards models were used for univariable and multivariable analyses.
  
  
  RESULTS
  Overall, 283 adult patients with a median age of 48 years (range, 19 to 81 years) were included in the study. Seventy-two percent of patients started ERT at some time during follow-up, and 28% never received ERT. During follow-up (median, 6 years; range, 0.04 to 9 years), 46 patients died, 28 (61%) of whom had never received ERT. After adjustment for age, sex, country of residence, and disease severity (based on wheelchair and ventilator use), ERT was positively associated with survival (hazard ratio, 0.41; 95% CI, 0.19 to 0.87).
  
  
  CONCLUSIONS
  This prospective study was the first to demonstrate the positive effect of ERT on survival in adults with Pompe disease. Given the relatively recent registration of ERT for Pompe disease, these findings further support its beneficial impact in adult patients.
authors.forename: Deniz
authors.initials: D
authors.lastname: Güngör
authors.forename: Michelle E
authors.initials: ME
authors.lastname: Kruijshaar
authors.forename: Iris
authors.initials: I
authors.lastname: Plug
authors.forename: Ralph B
authors.initials: RB
authors.lastname: D'Agostino
authors.forename: Marloes L C
authors.initials: ML
authors.lastname: Hagemans
authors.forename: Pieter A
authors.initials: PA
authors.lastname: van Doorn
authors.forename: Arnold J J
authors.initials: AJ
authors.lastname: Reuser
authors.forename: Ans T
authors.initials: AT
authors.lastname: van der Ploeg
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D056947:Enzyme Replacement Therapy / Q000379:methods*; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000188:drug therapy*; D006801:Humans; D008297:Male; D008875:Middle Aged; D011446:Prospective Studies; D055815:Young Adult