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Social/economic costs and health-related quality of life of mucopolysaccharidosis patients and their caregivers in Europe

  • Márta Péntek
  • László Gulácsi
  • Valentin Brodszky
  • Petra Baji
  • Imre Boncz
  • Gábor Pogány
  • Julio López-Bastida
  • Renata Linertová
  • Juan Oliva-Moreno
  • Pedro Serrano-Aguilar
  • Manuel Posada-de-la-Paz
  • Domenica Taruscio
  • Georgi Iskrov
  • Arrigo Schieppati
  • Johann Matthias Graf von der Schulenburg
  • Panos Kanavos
  • Karine Chevreul
  • Ulf Persson
  • Giovanni Fattore
  • BURQOL-RD Research Network
Original Paper

Abstract

Objectives

To assess the health-related quality of life (HRQOL) of patients with mucopolysaccharidosis (MPS) and their caregivers and to quantify the disease-related costs from a societal perspective.

Methods

In the context of a multi-country study of rare diseases (BURQOL-RD project), a cross-sectional survey was performed among MPS patients in seven European countries. Data on demographic characteristics, health resource utilization, informal care, and loss of labor productivity were collected. The EQ-5D, Barthel index (BI), and Zarit burden interview (ZBI) questionnaires were used to assess patients’ and their informal caregivers’ quality of life, patients’ functional ability, and caregivers’ burden, respectively.

Results

Altogether, 120 patients (children 62 %, females 40 %) and 66 caregivers completed the questionnaire. Patients’ mean age was 16.5 years and median age at diagnosis was 3 years. Adult patients’ average EQ-5D and EQ VAS scores varied across countries from 0.13 to 0.43 and 30.0 to 62.2, respectively, mean BI was 46.7, and ZBI was 32.7. Mean informal care time was 51.3 h/week. The mean total annual cost per patient (reference year 2012) was €24,520 in Hungary, €25,993 in France, €84,921 in Italy, €94,384 in Spain, and €209,420 in Germany. Costs are also shown to differ between children and adults. Direct costs accounted for most of the costs in all five countries (80, 100, 99, 98, and 93 %, respectively).

Conclusions

MPS patients experience substantial loss of HRQOL and their families take a remarkable part in their care. Although utilization of health and social care resources varies significantly across countries, MPS incurs considerable societal costs in all the countries studied.

Keywords

Mucopolysaccharidosis Health-related quality of life Cost-of-illness Caregiver EQ-5D 

JEL Classification

I190 

Notes

Acknowledgments

The authors wish to thank: National Alliance of People with Rare Diseases (NAPRD), Bulgaria; Alliance Maladies Rares, France; ACHSE, Germany; Hungarian Federation of People with Rare and Congenital Diseases (RIROSZ), Hungary; Federazione Italiana Malattie Rare (UNIAMO), Italy; the Consulta Nazionale delle Malattie Rare, Italy; Rare Diseases Sweden; Federación Española de Efermedades Raras (FEDER), Spain; Rare Disease UK and Rare Diseases Europe (EURORDIS); National Mucopolysaccharidosis Association, Bulgaria; Gesellschaft für Mukopolysaccharidosen e.V., Germany; Magyar Mukopoliszaccharidózis Társaság, Hungary, A.I.MPSAssociazione italiana mucopolisaccaridosi e malattie affini, Italy; Asociación Española de las Mucopolisacaridosis y Síndromes Relacionados and Asociación Valenciana de Sanfilippo i altres mucopolisacaridosis, Spain.

Compliance with ethical standards

Funding

Supported by the Social/Economic Burden and Health-Related Quality of Life in Patients with Rare Diseases in Europe Project, which received funding from the European Union within the framework of the Health Programme [Grant A101205]. The Executive Agency of the European Union is not responsible for any use that may be made of the information contained herein.

Conflict of interest

The authors declare that they have no conflicts of interest.

Supplementary material

10198_2016_787_MOESM1_ESM.docx (16 kb)
Supplementary material 1 (DOCX 16 kb)
10198_2016_787_MOESM2_ESM.doc (41 kb)
Supplementary material 2 (DOC 41 kb)

References

  1. 1.
    Muenzer, J.: The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J. Pediatr. 144, S27–S34 (2004)CrossRefPubMedGoogle Scholar
  2. 2.
    Muenzer, J.: Overview of the mucopolysaccharidoses. Rheumatology (Oxford) 50, v4–v12 (2011)CrossRefGoogle Scholar
  3. 3.
    Braunlin, E.A., Harmatz, P.R., Scarpa, M., Furlanetto, B., Kampmann, C., Loehr, J.P., Ponder, K.P., Roberts, W.C., Rosenfeld, H.M., Giugliani, R.: Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J. Inherit. Metab. Dis. 34, 1183–1197 (2011)CrossRefPubMedPubMedCentralGoogle Scholar
  4. 4.
    Ashworth, J., Flaherty, M., Pitz, S., Ramlee, A.: Assessment and diagnosis of suspected glaucoma in patients with mucopolysaccharidosis. Acta Ophthalmol. 93, e111–e117 (2015)CrossRefPubMedGoogle Scholar
  5. 5.
    Berger, K.I., Fagondes, S.C., Giugliani, R., Hardy, K.A., Lee, K.S., McArdle, C., Scarpa, M., Tobin, M.J., Ward, S.A., Rapoport, D.M.: Respiratory and sleep disorders in mucopolysaccharidosis. J. Inherit. Metab. Dis. 36, 201–210 (2013)CrossRefPubMedGoogle Scholar
  6. 6.
    Cimaz, R., La Torre, F.: Mucopolysaccharidoses. Curr. Rheumatol. Rep. 16, 389 (2014)CrossRefPubMedGoogle Scholar
  7. 7.
    Leadley, R.M., Lang, S., Misso, K., Bekkering, T., Ross, J., Akiyama, T., Fietz, M., Giugliani, R., Hendriksz, C.J., Hock, N.L., McGill, J., Olaye, A., Jain, M., Kleijnen, J.: A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases. Orphanet. J. Rare Dis. 9, 173 (2014)CrossRefPubMedPubMedCentralGoogle Scholar
  8. 8.
    Jurecka, A., Lugowska, A., Golda, A., Czartoryska, B., Tylki-Szymanska, A.: Prevalence rates of mucopolysaccharidoses in Poland. J. Appl. Genet. 56, 205–210 (2015)CrossRefPubMedGoogle Scholar
  9. 9.
    EMA: Relevant sources for orphan disease prevalence data. http://www.ema.europa.eu/docs/en_GB/document_library/Other/2012/07/WC500130297.pdf (2014). Accessed 31 Oct 2015
  10. 10.
    Noh, H., Lee, J.I.: Current and potential therapeutic strategies for mucopolysaccharidoses. J. Clin. Pharm. Ther. 39, 215–224 (2014)CrossRefPubMedGoogle Scholar
  11. 11.
    Schlander, M., Beck, M.: Expensive drugs for rare disorders: to treat or not to treat? The case of enzyme replacement therapy for mucopolysaccharidosis VI. Curr. Med. Res. Opin. 25, 1285–1293 (2009)CrossRefPubMedGoogle Scholar
  12. 12.
    Szegedi, M., Molnar, M.J., Boncz, I., Kosztolanyi, G.: Shift of focus in the financing of Hungarian drugs. Reimbursement for orphan drugs for treating rare diseases: financing of enzyme replacement therapy in Hungary. Orv. Hetil. 155, 1735–1741 (2014)CrossRefPubMedGoogle Scholar
  13. 13.
    Drummond, M., Towse, A.: Orphan drugs policies: a suitable case for treatment. Eur. J. Health Econ. 15, 335–340 (2014)CrossRefPubMedGoogle Scholar
  14. 14.
    Angelis, A., Tordrup, D., Kanavos, P.: Socio-economic burden of rare diseases: a systematic review of cost of illness evidence. Health Policy 119, 964–979 (2015)CrossRefPubMedGoogle Scholar
  15. 15.
    Linertova, R., Serrano-Aguilar, P., Posada-de-la-Paz, M., Hens-Perez, M., Kanavos, P., Taruscio, D., Schieppati, A., Stefanov, R., Pentek, M., Delgado, C., von der Schulenburg, J.M., Persson, U., Chevreul, K., Fattore, G., Worbes-Cerezo, M., Sefton, M., Lopez-Bastida, J.: Delphi approach to select rare diseases for a European representative survey. BURQOL-RD Study Health Policy 108, 19–26 (2012)CrossRefPubMedGoogle Scholar
  16. 16.
    Pentek, M., Kosztolanyi, G., Melegh, B., Halasz, A., Pogany, G., Baji, P., Brodszky, V., Vartokne, H.N., Boncz, I., Gulacsi, L.: Cystic fibrosis—disease burden and health-related quality of life of patients and their caregivers: results of the European BURQOL-RD survey in Hungary. Orv. Hetil. 155, 1673–1684 (2014)CrossRefPubMedGoogle Scholar
  17. 17.
    Chevreul, K., Brigham, K.B., Michel, M., Rault, G.: Costs and health-related quality of life of patients with cystic fibrosis and their carers in France. J. Cyst. Fibros. 14, 384–391 (2015)CrossRefPubMedGoogle Scholar
  18. 18.
    Drummond, M., O’Brien, B., Stoddart, G., Torrance, G.: Methods for the economic evaluation of health care programmes, 2nd edn. Oxford University Press, Oxford (1997)Google Scholar
  19. 19.
    McDaid, D.: Estimating the costs of informal care for people with Alzheimer’s disease: methodological and practical challenges. Int. J. Geriatr. Psychiatry 16, 400–405 (2001)CrossRefPubMedGoogle Scholar
  20. 20.
    van den Berg, B., Brouwer, W.B., Koopmanschap, M.A.: Economic valuation of informal care. An overview of methods and applications. Eur. J. Health Econ. 5, 36–45 (2004)CrossRefPubMedGoogle Scholar
  21. 21.
    Hodgson, T.A., Meiners, M.R.: Cost-of-illness methodology: a guide to current practices and procedures. Milbank Mem. Fund Q. Health Soc. 60, 429–462 (1982)CrossRefPubMedGoogle Scholar
  22. 22.
    Dolan, P.: Modeling valuations for EuroQol health states. Med. Care 35(11), 1095–1108 (1997)CrossRefPubMedGoogle Scholar
  23. 23.
    Szende, Á., Oppe, M., Devlin, N. (eds.): EQ-5D value sets: inventory, comparative review and user guide. Springer, Netherlands (2007)Google Scholar
  24. 24.
    Mahoney, F.I., Barthel, D.W.: Functional evaluation: the Barthel index. Md. State Med. J. 14, 61–65 (1965)PubMedGoogle Scholar
  25. 25.
    Shah, S., Vanclay, F., Cooper, B.: Improving the sensitivity of the Barthel index for stroke rehabilitation. J. Clin. Epidemiol. 42, 703–709 (1989)CrossRefPubMedGoogle Scholar
  26. 26.
    Hébert, R., Bravo, G., Préville, M.: Reliability, validity, and reference values of the Zarit burden interview for assessing informal caregivers of community-dwelling older persons with dementia. Can. J. Aging 19, 494–507 (2000)CrossRefGoogle Scholar
  27. 27.
    Szende, A., Nemeth, R.: Health-related quality of life of the Hungarian population. Orv. Hetil. 144(34), 1667–1674 (2003)PubMedGoogle Scholar
  28. 28.
    Connock, M., Juarez-Garcia, A., Frew, E., Mans, A., Dretzke, J., Fry-Smith, A., Moore, D.: A systematic review of the clinical effectiveness and cost-effectiveness of enzyme replacement therapies for Fabry’s disease and mucopolysaccharidosis type 1. Health Technol. Assess. 10(20), iii–iv, ix–113 (2006)Google Scholar
  29. 29.
    Hendriksz, C.J., Lavery, C., Coker, M., Ucar, S.K., Jain, M., Bell, L., Lampe, C.: Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey. Orphanet J. Rare Dis. 9, 32 (2014)CrossRefPubMedPubMedCentralGoogle Scholar
  30. 30.
    Guffon, N., Heron, B., Chabrol, B., Feillet, F., Montauban, V., Valayannopoulos, V.: Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study. Orphanet J. Rare Dis. 10, 43 (2015)CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • Márta Péntek
    • 1
  • László Gulácsi
    • 1
  • Valentin Brodszky
    • 1
  • Petra Baji
    • 1
  • Imre Boncz
    • 2
  • Gábor Pogány
    • 3
  • Julio López-Bastida
    • 4
    • 5
  • Renata Linertová
    • 5
    • 6
  • Juan Oliva-Moreno
    • 5
    • 7
  • Pedro Serrano-Aguilar
    • 5
    • 8
  • Manuel Posada-de-la-Paz
    • 9
  • Domenica Taruscio
    • 10
  • Georgi Iskrov
    • 11
    • 12
  • Arrigo Schieppati
    • 13
  • Johann Matthias Graf von der Schulenburg
    • 14
  • Panos Kanavos
    • 15
  • Karine Chevreul
    • 16
    • 17
    • 18
  • Ulf Persson
    • 19
  • Giovanni Fattore
    • 20
  • BURQOL-RD Research Network
  1. 1.Department of Health EconomicsCorvinus University of BudapestBudapestHungary
  2. 2.Institute for Health Insurance, University of PécsPécsHungary
  3. 3.Hungarian Federation of People with Rare and Congenital Diseases (RIROSZ)BudapestHungary
  4. 4.University of Castilla-La ManchaTalavera de la ReinaSpain
  5. 5.Red de Investigación en Servicios Sanitarios en Enfermedades Crónicas (REDISSEC)MadridSpain
  6. 6.Fundación Canaria de Investigación Sanitaria (FUNCANIS)Las Palmas de Gran CanariaSpain
  7. 7.University of Castilla-La ManchaToledoSpain
  8. 8.Evaluation and Planning Service at Canary Islands Health ServiceSanta Cruz de TenerifeSpain
  9. 9.Institute of Rare Diseases Research, ISCIII, SpainRDR & CIBERERMadridSpain
  10. 10.National Centre for Rare Diseases, Istituto Superiore di Sanità (ISS)RomeItaly
  11. 11.Institute of Rare DiseasesPlovdivBulgaria
  12. 12.Department of Social Medicine and Public Health, Faculty of Public HealthMedical University of PlovdivPlovdivBulgaria
  13. 13.Centro di Ricerche Cliniche per Malattie Rare Aldo e Cele Daccò, Istituto di Ricerche Farmacologiche Mario NegriRanica (Bergamo)Italy
  14. 14.Centre for Health Economics Research Hannover (CHERH)Leibniz Universität HannoverHannoverGermany
  15. 15.Department of Social Policy and LSE HealthLondon School of Economics and Political ScienceLondonUK
  16. 16.URC Eco Ile de France, AP-HP, Hôtel DieuParisFrance
  17. 17.Université Paris Diderot, Sorbonne Paris Cité, ECEVE, UMRS 1123ParisFrance
  18. 18.INSERM, ECEVE, U1123ParisFrance
  19. 19.The Swedish Institute for Health EconomicsLundSweden
  20. 20.Centre for Research on Health and Social Care Management (CERGAS)Bocconi UniversityMilanItaly

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