title: Enzyme replacement therapy and fatigue in adults with Pompe disease.
abstract: BACKGROUND
  Pompe disease is a hereditary metabolic myopathy, for which enzyme replacement therapy (ERT) has been available since 2006. We investigated whether ERT reduces fatigue in adult patients with Pompe disease.
  
  
  METHODS
  In this prospective international observational survey, we used the Fatigue Severity Scale (FSS) to measure fatigue. Repeated measures ANOVA was used to analyze the data over time. In a subgroup of patients, we also evaluated muscle strength using the Medical Research Council Scale, measured pulmonary function as Forced Vital Capacity, and assessed depression using the Hospital Anxiety and Depression Scale.
  
  
  RESULTS
  We followed 163 patients for a median period of 4 years before ERT and for 3 years during ERT. Before ERT, the mean FSS score remained stable at around 5.3 score points; during ERT, scores improved significantly by 0.13 score points per year (p < 0.001). Fatigue decreased mainly in women, in older patients and in those with shorter disease duration. Patients' improvements in fatigue were moderately correlated with the effect of ERT on depression (r 0.55; CI 95% 0.07 to 0.70) but not with the effect of ERT on muscle strength or pulmonary function.
  
  
  CONCLUSIONS
  Fatigue is a common and disabling problem in patients with early and advanced stages of Pompe disease. Our finding that ERT helps to reduce fatigue is therefore important for this patient population, irrespective of the mechanisms underlying this effect.
authors.affiliation: Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. d.gungor@erasmusmc.nl
authors.forename: Deniz
authors.initials: D
authors.lastname: Güngör
authors.forename: Juna M
authors.initials: JM
authors.lastname: de Vries
authors.forename: Esther
authors.initials: E
authors.lastname: Brusse
authors.forename: Michelle E
authors.initials: ME
authors.lastname: Kruijshaar
authors.forename: Wim C J
authors.initials: WC
authors.lastname: Hop
authors.forename: Magda
authors.initials: M
authors.lastname: Murawska
authors.forename: Linda E M
authors.initials: LE
authors.lastname: van den Berg
authors.forename: Arnold J J
authors.initials: AJ
authors.lastname: Reuser
authors.forename: Pieter A
authors.initials: PA
authors.lastname: van Doorn
authors.forename: Marloes L C
authors.initials: ML
authors.lastname: Hagemans
authors.forename: Iris
authors.initials: I
authors.lastname: Plug
authors.forename: Ans T
authors.initials: AT
authors.lastname: van der Ploeg
mesh_terms: D000328:Adult; D000368:Aged; D056947:Enzyme Replacement Therapy; D005221:Fatigue / Q000503:physiopathology / Q000628:therapy*; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000473:pathology / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D008297:Male; D008875:Middle Aged; D053580:Muscle Strength; D011446:Prospective Studies; D016896:Treatment Outcome; D014797:Vital Capacity; D055815:Young Adult; D000520:alpha-Glucosidases / Q000627:therapeutic use*
chemical_list: D000520:alpha-Glucosidases