title: Social/economic costs and health-related quality of life in patients with Duchenne muscular dystrophy in Europe.
abstract: OBJECTIVE
  The aim of this study was to determine the economic burden from a societal perspective and the health-related quality of life (HRQOL) of patients with Duchenne muscular dystrophy (DMD) in Europe.
  
  
  METHODS
  We conducted a cross-sectional study of patients with DMD from Bulgaria, France, Germany, Hungary, Italy, Spain, Sweden, and the UK. Data on demographic characteristics, healthcare resource utilization, informal care, labor productivity losses, and HRQOL were collected from the questionnaires completed by patients or their caregivers. HRQOL was measured with the EuroQol 5-domain (EQ-5D) questionnaire. Costs have been estimated from a societal perspective adopting a bottom-up approach.
  
  
  RESULTS
  A total of 422 questionnaires were included in the study; 268 of which were collected from patients with DMD and 154 from caregivers. The average annual cost per person in 2012 ranged from €7657 in Hungary to €58,704 in France. Direct non-healthcare costs are the main component of whole costs and informal care is the main driver of non-healthcare costs. Costs are also shown to differ between children and adults. With regard to HRQOL of adult patients, the EQ-5D VAS score and EQ-5D index scores were 50.5 and 0.24, respectively. The corresponding EQ-5D VAS and EQ-5D index scores for caregivers were 74.7 and 0.71, respectively.
  
  
  CONCLUSIONS
  We have estimated the average annual cost per patient with DMD in eight European countries adopting a social perspective, and to our knowledge this is the first study with such a wide perspective. The results on costs show a considerable gap between Eastern and Western European countries. Non-healthcare costs range from 64 to 89 % of overall costs and informal care is to a great extent the main driver of this cost category. The HRQOL of people with DMD is much lower than that of the general population.
authors.affiliation: Centre for Research on Health and Social Care Management (CERGAS), Bocconi University, Via Roentgen 1, 20136, Milan, Italy. marianna.cavazza@unibocconi.it.
authors.forename: Marianna
authors.initials: M
authors.lastname: Cavazza
authors.affiliation: National Centre for Rare Diseases, Istituto Superiore di Sanità (ISS), Rome, Italy.
authors.forename: Yllka
authors.initials: Y
authors.lastname: Kodra
authors.affiliation: Centre for Research on Health and Social Care Management (CERGAS), Bocconi University, Via Roentgen 1, 20136, Milan, Italy.
authors.forename: Patrizio
authors.initials: P
authors.lastname: Armeni
authors.affiliation: National Centre for Rare Diseases, Istituto Superiore di Sanità (ISS), Rome, Italy.
authors.forename: Marta
authors.initials: M
authors.lastname: De Santis
authors.affiliation: University of Castilla-La Mancha, Talavera de la Reina, Toledo, Spain.|Red de Investigación en Servicios Sanitarios en Enfermedades Crónicas (REDISSEC), Madrid, Spain.
authors.forename: Julio
authors.initials: J
authors.lastname: López-Bastida
authors.affiliation: Red de Investigación en Servicios Sanitarios en Enfermedades Crónicas (REDISSEC), Madrid, Spain.|Fundación Canaria de Investigación Sanitaria (FUNCANIS), Las Palmas de Gran Canaria, Spain.
authors.forename: Renata
authors.initials: R
authors.lastname: Linertová
authors.affiliation: Red de Investigación en Servicios Sanitarios en Enfermedades Crónicas (REDISSEC), Madrid, Spain.|University of Castilla-La Mancha, Toledo, Spain.
authors.forename: Juan
authors.initials: J
authors.lastname: Oliva-Moreno
authors.affiliation: Red de Investigación en Servicios Sanitarios en Enfermedades Crónicas (REDISSEC), Madrid, Spain.|Evaluation and Planning Service at Canary Islands Health Service, Santa Cruz de Tenerife, Spain.
authors.forename: Pedro
authors.initials: P
authors.lastname: Serrano-Aguilar
authors.affiliation: Institute of Rare Diseases Research, ISCIII, SpainRDR and CIBERER, Madrid, Spain.
authors.forename: Manuel
authors.initials: M
authors.lastname: Posada-de-la-Paz
authors.affiliation: National Centre for Rare Diseases, Istituto Superiore di Sanità (ISS), Rome, Italy.
authors.forename: Domenica
authors.initials: D
authors.lastname: Taruscio
authors.affiliation: Centro di Ricerche Cliniche per le Malattie Rare "Aldo e Cele Daccò", Mario Negri Institute for Pharmacological Research, Ranica, Bergamo, Italy.
authors.forename: Arrigo
authors.initials: A
authors.lastname: Schieppati
authors.affiliation: Institute of Rare Diseases, Plovdiv, Bulgaria.|Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria.
authors.forename: Georgi
authors.initials: G
authors.lastname: Iskrov
authors.affiliation: Department of Health Economics, Corvinus University of Budapest, Budapest, Hungary.
authors.forename: Márta
authors.initials: M
authors.lastname: Péntek
authors.affiliation: Centre for Health Economics Research Hannover (CHERH), Leibniz Universität Hannover, Hannover, Germany.
authors.forename: Johann Matthias Graf
authors.initials: JM
authors.lastname: von der Schulenburg
authors.affiliation: Department of Social Policy and LSE Health, London School of Economics and Political Science, London, UK.
authors.forename: Panos
authors.initials: P
authors.lastname: Kanavos
authors.affiliation: URC Eco Ile de France, AP-HP, Paris, France.|Université Paris Diderot, Sorbonne Paris Cité, ECEVE, UMRS 1123, Paris, France.|INSERM, ECEVE, U1123, Paris, France.
authors.forename: Karine
authors.initials: K
authors.lastname: Chevreul
authors.affiliation: The Swedish Institute for Health Economics, Lund, Sweden.
authors.forename: Ulf
authors.initials: U
authors.lastname: Persson
authors.affiliation: Centre for Research on Health and Social Care Management (CERGAS), Bocconi University, Via Roentgen 1, 20136, Milan, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Fattore
mesh_terms: D000293:Adolescent; D000328:Adult; D017028:Caregivers / Q000706:statistics & numerical data; D002648:Child; D002675:Child, Preschool; D017281:Cost of Illness; D003430:Cross-Sectional Studies; D005060:Europe; D005260:Female; D017048:Health Care Costs / Q000706:statistics & numerical data; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000191:economics* / Q000523:psychology; D005791:Patient Care / Q000191:economics; D011788:Quality of Life; D018582:Sick Leave / Q000191:economics; D018434:Sickness Impact Profile; D012959:Socioeconomic Factors; D011795:Surveys and Questionnaires; D006113:United Kingdom; D055815:Young Adult
keywords: Duchenne muscular dystrophy; Health-related quality of life; Rare diseases; Social burden; Societal costs