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The European Journal of Health Economics

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01-04-2016 | Editorial

Social/economic costs and health-related quality of life in patients with rare diseases in Europe

Authors: Julio López-Bastida, Juan Oliva-Moreno, Renata Linertová, Pedro Serrano-Aguilar

Published in: The European Journal of Health Economics | Special Issue 1/2016

Excerpt

Although there is no single commonly accepted definition worldwide for rare diseases [1], the European Commission has agreed that rare diseases are life-threatening or chronically debilitating conditions affecting no more than 5 in 10,000 people in the European Union (EU) [2]. Despite the low frequency of each single rare disease, it is estimated that between 5000 and 8000 rare diseases have been described, affecting 6–8 % of the population in the course of their lives, for a total number of people ranging between 27 and 36 million in the EU [3‐5]. …

Institute of Medicine of the National Academies. Rare diseases and orphan products. accelerating research and development. The National Academies Press (2010)

European Commission. Improving access to orphan medicines for all affected EU citizens. Available at: http://ec.europa.eu/pharmaphorum/docs/pricing_orphans_en.pdf

EUROSDIS. Rare diseases: Understanding this public health priority (2005). Available at: http://www.eurordis.org/publication/rare-diseases-understanding-public-health-priority

Fischer, A., Borensztein, P., Roussel, C.: The European rare diseases therapeutic initiative. PLoS Med. 2(9), e243 (2005)CrossRefPubMedPubMedCentral

Commission of the European Communities. Communication from the Commission to the European Parliament, the Council, the European Economic and Social Committee and the Committee of the Regions on Rare Diseases: Europe’s challenges Brussels, 11.11.2008. Available at: http://ec.europa.eu/health/ph_threats/non_com/docs/rare_com_en.pdf

Schieppati, A., Henter, J.I., Daina, E., Aperia, A.: Why rare diseases are an important medical and social issue. Lancet 371(9629), 2039–2041 (2008)CrossRefPubMed

Denis A, Simoens S, Fostier C, Mergaert L, Cleemput I. Policies for orphan diseases and orphan drugs. health technology assessment (HTA). Brussels: Belgian Health Care Knowledge Centre (KCE); 2009. KCE reports 112C (D/2009/10.273/32)

Winter, Y., Schepelmann, K., Spottke, A.E., Claus, D., Grothe, C., Schröder, R., Heuss, D., Vielhaber, S., Tackenberg, B., Mylius, V., Reese, J.P., Kiefer, R., Schrank, B., Oertel, W.H., Dodel, R.: Health-related quality of life in ALS, myasthenia gravis and facioscapulohumeral muscular dystrophy. J. Neurol. 257(9), 1473–1481 (2010)CrossRefPubMed

López-Bastida, J., Perestelo-Pérez, L., Montón-Alvarez, F., Serrano-Aguilar, P.: Social economic costs and health-related quality of life in patients with degenerative cerebellar ataxia in Spain. MovDisord. 23(2), 212–217 (2008)

10.

López-Bastida, J., Perestelo-Pérez, L., Montón-Alvarez, F., Serrano-Aguilar, P., Alfonso-Sanchez, J.L.: Social economic costs and health-related quality of life in patients with amyotrophic lateral sclerosis in Spain. Amyotroph Lateral Scler. 10(4), 237–243 (2009)CrossRefPubMed

11.

Minden, K.: What are the costs of childhood-onset rheumatic disease? Best Pract. Res. Clin. Rheumatol. 20(2), 223–240 (2006)CrossRefPubMed

12.

Minier, T., Péntek, M., Brodszky, V., Ecseki, A., Kárpáti, K., Polgár, A., Czirják, L., Gulácsi, L.: Cost-of-illness of patients with systemic sclerosis in a tertiary care centre. Rheumatology (Oxford) 49(10), 1920–1928 (2010)CrossRef

13.

Linertová, R., Serrano-Aguilar, P., Posada-de-la-Paz, M., Hens-Pérez, M., Kanavos, P., Taruscio, D., Schieppati, A., Stefanov, R., Péntek, M., Delgado, C., von der Schulenburg, J.M., Persson, U., Chevreul, K., Fattore, G., Worbes-Cerezo, M., Sefton, M., López-Bastida, J., BURQOL-RD Research Group: Delphi approach to select rare diseases for a European representative survey. The BURQOL-RD study. Health Policy 108(1), 19–26 (2012)CrossRefPubMed

14.

Serrano-Aguilar P, Linertova R, Posada-de-la-Paz M, López-Bastida J, González-Hernández N, Taruscio D, BURQOL-RD Research Network. Recruitment procedures for descriptive socio-economic studies in rare diseases. The BURQOL-RD Project. Exp. Opin. Orphan Drugs 2015; 3(7):759–765

15.

Association française pour le dépistage et la prévention des handicaps de l’enfant: Bilan d’activité 2012 (2013)

16.

Chevreul K, Michel M, Berg-Brigham K et al. Social economic costs and health-related quality of life in patients with cystic fibrosis in Europe. Euro. J. Health Econ.

17.

Whittington, J.E., Holland, A.J., Webb, T., Butler, J., Clarke, D., Boer, H.: Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region. Med. Genet. 38, 792–798 (2001)CrossRef

18.

Vogels, A., Van Den Ende, J., Keymolen, K., Mortier, G., Devriendt, K., Legius, E., Fryns, J.P.: Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders. Eur. J. Hum. Genet. 12, 238–240 (2004)CrossRefPubMed

19.

Lopez-Bastida J, Linertová R, Oliva-Moreno J et al. Social economic costs and health-related quality of life in patients with Prader-Willi syndrome in Europe. Euro. J. Health Econ. 9, 37 (2014)

20.

Rosendal FR, Briet E. The increasing prevalence of haemophilia. Thromb Haemostasis 1990; 63: 145. World Federation of Hemophilia, Report on the Annual Global Survey 2012; 2012. http://www1.wfh.org/publications/files/pdf-1574.pdf. Last accessed August 2015

21.

Evatt, B.L.: Demographics of haemophilia in developing countries. Semin. Thromb. Hemostasis 31, 489–494 (2005)CrossRef

22.

Stonebraker, J.S., Bolton-Maggs, P.H.B., Michael Soucie, J., et al.: A study of variations in the reported haemophilia. A prevalence around the world. Haemophilia 16, 20–32 (2010)CrossRefPubMed

23.

DeJager, T., Pericleous, L., KoKot-Kierapa, M., et al.: Burden and management of factor XIII deficiency. Haemophilia 20, 733–740 (2014)CrossRef

24.

Cavazza M, Kodra Y, Armeni P. Social economic costs and quality of life in patients with haemophilia in Europe. Euro. J. Health Econ.

25.

Mah, J.K., Korngu, L., Dykeman, J., Day, L., Pringsheim, T., Pringsheim, N.: A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy. Neuromuscul. Disord. 24, 482–491 (2014)CrossRefPubMed

26.

Kieny, P., Chollet, S., Delalande, P., Le, Fort M., Magot, A., Pereon, Y., Perrouin Verbe, B.: Evolution of life expectancy of patients with Duchenne muscular dystrophy at AFM Yolaine de Kepper centre between 1981 and 2011. Ann. Phys. Rehabil. Med. 56, 443–454 (2013)CrossRefPubMed

27.

Emery, A.E.: Muscular dystrophy into the new millennium. Neuromuscul. Disord. 12, 343–349 (2002)CrossRefPubMed

28.

Cavazza M, Kodra Y, Armeni P et al. Social economic costs and health-related quality of life in patients with duchenne muscular dystrophy in Europe. Euro. J. Health Econ.

29.

Fine, J.-D., et al.: The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J. Am. Acad. Dermatol. 58(6), 931–950 (2008)CrossRefPubMed

30.

Orphanet Report Series. Prevalence of rare diseases: bibliographic data. (2013)

31.

Angelis A, Kanavos P, López-Bastida J et al. Social economic costs and health-related quality of life in patients with epidermolysis bullosa in Europe. Euro. J. Health Econ.

32.

Bassell, G.J., Warren, S.T.: Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function. Neuron 60, 201–214 (2008)CrossRefPubMedPubMedCentral

33.

Crawford, D.C., Acuña, J.M., Sherman, S.L.: FMR1 and the fragile X syndrome: human genome epidemiology review. Genet. Med. Off. J. Am. Coll. Med. Genet. 3, 359–371 (2001)

34.

Orphanet Report Series—Prevalence of rare diseases: Bibliographic data., http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_decreasing_prevalence_or_cases.pdf (2013)

35.

Chevreul K, Michel M, Berg-Brigham K et al. Social economic costs and health-related quality of life in patients with fragile X syndrome in Europe. Euro. J. Health Econ.

36.

Chifflot, H., Fautrel, B., Sordet, C., Chatelus, E., Sibilia, J.: Incidence and prevalence of systemic sclerosis: a systematic literature review. Semin. Arthritis Rheum. 37, 223–235 (2008)CrossRefPubMed

37.

Czirjak, L., Kiss, C.G., Lovei, C., Suto, G., Varju, C., Fuzesi, Z., et al.: Survey of Raynaud’s phenomenon and systemic sclerosis based on a representative study of 10,000 South-Transdanubian Hungarian inhabitants. Clin. Exp. Rheumatol. 23, 801–808 (2005)PubMed

38.

Villaverde-Hueso, A., de la Paz, M.P., Martin-Arribas, M.C., Sanchez-Valle, E., Ramirez-Gonzalez, A., Biairdi, P.: Prevalence of scleroderma in Spain: an approach for estimating rare disease prevalence using a disease model. Pharmacoepidemiol. Drug Saf. 17, 1100–1107 (2008)CrossRefPubMed

39.

Silman, A., Jannini, S., Symmons, D., Bacon, P.: An epidemiological study of scleroderma in the West Midlands. Br. J. Rheumatol. 27, 286–290 (1988)CrossRefPubMed

40.

Arias-Nunez, M.C., Llorca, J., Vazquez-Rodriguez, T.R., Gomez- Acebo, I., Miranda-Filloy, J.A., Martin, J., et al.: Systemic sclerosis in northwestern Spain: a 19-year epidemiologic study. Medicine (Baltimore) 87, 272–280 (2008)CrossRef

41.

Haustein, U.F., Ziegler, V., Zschunke, E., et al.: Progressive systemic sclerosis with silicosis in the German Democratic Republic. In: Black, C.M., Myers, A.R. (eds.) Systemic sclerosis (scleroderma), pp. 138–142. Gower, New York (1985)

42.

Monaco, A.L., Bruschi, M., Corte, R.L., et al.: Epidemiology of systemic sclerosis in a district of northern Italy. Clin. Exp. Rheumatol. 29(Suppl. 65), S10–S14 (2011)PubMed

43.

Allcock, R.J., Forrest, I., Corris, P.A., Crook, P.R., Griffiths, I.D.: A study of the prevalence of systemic sclerosis in northeast England. Rheumatology 43, 596–602 (2004)CrossRefPubMed

44.

Andréasson, K., Saxne, T., Bergknut, C., Hesselstrand, R., Englund, M.: Prevalence and incidence of systemic sclerosis in southern Sweden: population-based data with case ascertainment using the 1980 ARA criteria and the proposed ACR-EULAR classification criteria. Ann. Rheum. Dis. 73(10), 1788–1792 (2014)CrossRefPubMed

45.

Lopez-Bastida J, Linertová R, Oliva-Moreno J et al. Social–economic costs and health-related quality of life in patients with systemic sclerosis in Europe. Euro. J. Health Econ.

46.

Jurecka, A., Lugowska, A., Golda, A., Czartoryska, B., Tylki-Szymanska, A.: Prevalence rates of mucopolysaccharidoses in Poland. J. Appl. Genet. 56(2), 205–210 (2015). doi:10.1007/s13353-014-0262-5 CrossRefPubMed

47.

Péntek M, Gulácsi L, Brodszky V et al. Social economic costs and health-related quality of life of mucopolysacharidosis patients and their caregivers in Europe. Euro. J. Health Econ.

48.

Ravelli, A., Martini, A.: Juvenile idiopathic arthritis. Lancet 369(9563), 767–778 (2007). doi:10.1016/S0140-6736(07)60363-8 CrossRefPubMed

49.

Kuhlmann A, Schmidt T, Treskova M, López-Bastida J et al. Social economic costs and health-related quality of life in patients with juvenile idiopathic arthritis in Europe. Euro. J. Health Econ.

50.

Hervier, B., Haroche, J., Arnaud, L., Charlotte, F., Donadieu, J., et al.: Association of both Langerhans cell histiocytosis and Erdheim-Chester disease linked to the BRAFV600E mutation. Blood 124, 1119–1126 (2014)CrossRefPubMed

51.

Histiocytosis Association: LCH in Children. http://www.histio.org/lchinchildren#.VJkyssgA. Accessed 23 December 2014

52.

Stålemark, H., Laurencikas, E., Karis, J., Gavhed, D., Fadeel, B., et al.: Incidence of Langerhans cell histiocytosis in children: a population-based study. Pediatr. Blood Cancer 51, 76–81 (2008)CrossRefPubMed

53.

Iskrov G, Astigarraga I, Stefanov R et al. Social economic costs and health-related quality of life in patients with histiocytosis in Europe. Euro. J. Health Econ.

Title: Social/economic costs and health-related quality of life in patients with rare diseases in Europe
Authors: Julio López-Bastida
Juan Oliva-Moreno
Renata Linertová
Pedro Serrano-Aguilar
Publication date: 01-04-2016
Publisher: Springer Berlin Heidelberg
Published in: The European Journal of Health Economics / Issue Special Issue 1/2016
Print ISSN: 1618-7598
Electronic ISSN: 1618-7601
DOI: https://doi.org/10.1007/s10198-016-0780-7

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Social/economic costs and health-related quality of life in patients with rare diseases in Europe

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Other articles of this Special Issue 1/2016

Social/economic costs and health-related quality of life in patients with scleroderma in Europe

Social/economic costs and health-related quality of life in patients with histiocytosis in Europe

Social/economic costs and health-related quality of life in patients with fragile X syndrome in Europe

Social/economic costs and health-related quality of life in patients with epidermolysis bullosa in Europe

Social/economic costs and quality of life in patients with haemophilia in Europe

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