title: Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up.
abstract: BACKGROUND
  Pompe disease is an inheritable metabolic disorder for which enzyme replacement therapy (ERT) has been available since 2006. Effects of ERT have been shown on distance walked, pulmonary function and survival. We investigated whether it also improves quality of life and participation in daily life in adult patients with the disease.
  
  
  METHODS
  In an international survey, we assessed quality of life (Short Form 36, SF-36) and participation (Rotterdam Handicap Scale, RHS) annually between 2002 and 2012. Repeated measurements mixed effects models were used to describe the data over time.
  
  
  RESULTS
  Responses were available for 174 adult patients. In the periods before and after start of ERT, the median follow-up times were 4 years each (range 0.5-8). The SF-36 Physical Component Summary measure (PCS) deteriorated before ERT (-0.73 score points per year (sp/y); CI 95 % -1.07 to -0.39), while it improved in the first 2 years of ERT (1.49 sp/y; CI 0.76 to 2.21), and remained stable thereafter. The Mental Component Summary measure (MCS) remained stable before and during ERT. After declining beforehand (-0.49 sp/year; CI -0.64 to-0.34), the RHS stabilized under ERT.
  
  
  CONCLUSIONS
  In adult patients with Pompe disease, ERT positively affects quality of life and participation in daily life. Our results reinforce previous findings regarding the effect of ERT on muscle strength, pulmonary function and survival.
authors.affiliation: Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, PO BOX 2060, 3000, CB, Rotterdam, The Netherlands. d.gungor@erasmusmc.nl.
authors.forename: Deniz
authors.initials: D
authors.lastname: Güngör
authors.affiliation: Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands. m.kruijshaar@erasmusmc.nl.
authors.forename: Michelle E
authors.initials: ME
authors.lastname: Kruijshaar
authors.affiliation: Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands. i.plug@erasmusmc.nl.
authors.forename: Iris
authors.initials: I
authors.lastname: Plug
authors.affiliation: Department of Biostatistics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. d.rizopoulos@erasmusmc.nl.
authors.forename: Dimitris
authors.initials: D
authors.lastname: Rizopoulos
authors.affiliation: Department of Health Policy and Management, Institute for Medical Technology Assessment, Erasmus University Rotterdam, Rotterdam, The Netherlands. kanters@bmg.eur.nl.
authors.forename: Tim A
authors.initials: TA
authors.lastname: Kanters
authors.affiliation: Department of Neurology, Erasmus MC University Medical Center, Rotterdam, The Netherlands. s.wens@erasmusmc.nl.
authors.forename: Stephan C A
authors.initials: SC
authors.lastname: Wens
authors.affiliation: Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. a.reuser@erasmusmc.nl.
authors.forename: Arnold J J
authors.initials: AJ
authors.lastname: Reuser
authors.affiliation: Department of Neurology, Erasmus MC University Medical Center, Rotterdam, The Netherlands. p.a.vandoorn@erasmusmc.nl.
authors.forename: Pieter A
authors.initials: PA
authors.lastname: van Doorn
authors.affiliation: Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands. a.vanderploeg@erasmusmc.nl.
authors.forename: Ans T
authors.initials: AT
authors.lastname: van der Ploeg
mesh_terms: D000203:Activities of Daily Living / Q000523:psychology*; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D056947:Enzyme Replacement Therapy / Q000379:methods; D005260:Female; D005500:Follow-Up Studies; D006009:Glycogen Storage Disease Type II / Q000188:drug therapy* / Q000523:psychology*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D053580:Muscle Strength / Q000502:physiology; D011247:Pregnancy; D011446:Prospective Studies; D011788:Quality of Life / Q000523:psychology*; D055815:Young Adult