title: Burden of illness of Pompe disease in patients only receiving supportive care.
abstract: BACKGROUND
  Pompe disease is an orphan disease for which enzyme replacement therapy (ERT) recently became available. This study aims to estimate all relevant aspects of burden of illness--societal costs, use of home care and informal care, productivity losses, and losses in health-related quality of life (HRQoL)--for adult Pompe patients only receiving supportive care.
  
  
  METHODS
  We collected data on all relevant aspects of burden of illness via a questionnaire. We applied a societal perspective in calculating costs. The EQ-5D was used to estimate HRQoL.
  
  
  RESULTS
  Eighty adult patients (87% of the total Dutch adult Pompe population) completed a questionnaire. Disease severity ranged from mild to severe. Total annual costs were estimated at <euro>22,475 (range <euro>0-169,539) per adult Pompe patient. Patients on average received 8 h of home care and 19 h of informal care per week. Eighty-five percent of the patients received informal care from one or more caregivers; 40% had stopped working due to their disease; another 20% had reduced their working hours. HRQoL for Pompe patients who only received supportive care was estimated at 0.72, 17% lower than the Dutch population at large.
  
  
  CONCLUSIONS
  Adult Pompe disease is associated with a considerable burden of illness at both the societal and patient levels. The disease leads to substantial costs and dependency on medical devices, home care, and informal care, and has a high impact on the patient's social network. In addition, patients are limited in their ability to work and have significantly reduced HRQoL.
authors.affiliation: Department of Health Policy & 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.forename: Marloes L C
authors.initials: ML
authors.lastname: Hagemans
authors.forename: Nadine A M E
authors.initials: NA
authors.lastname: van der Beek
authors.forename: Frans F H
authors.initials: FF
authors.lastname: Rutten
authors.forename: Ans T
authors.initials: AT
authors.lastname: van der Ploeg
authors.forename: Leona
authors.initials: L
authors.lastname: Hakkaart
mesh_terms: D000041:Absenteeism; D000328:Adult; D000368:Aged; D017281:Cost of Illness; D004526:Efficiency; D004651:Employment / Q000706:statistics & numerical data; D005260:Female; D005500:Follow-Up Studies; D006009:Glycogen Storage Disease Type II / Q000191:economics* / Q000453:epidemiology / Q000628:therapy*; D017048:Health Care Costs; D006760:Hospitalization / Q000191:economics / Q000706:statistics & numerical data; D006801:Humans; D008297:Male; D008875:Middle Aged; D010166:Palliative Care / Q000191:economics / Q000379:methods; D011788:Quality of Life; D011795:Surveys and Questionnaires