Pharmaceutical Development and Regulation

, Volume 1, Issue 3, pp 151–157 | Cite as

Equity, Access and Economic Evaluation in Rare Diseases

The Impact of Orphan Drug Legislation on Health Policy and Patient Care
  • Nick Bosanquet
  • Gianfranco Domenighetti
  • Ariel Beresniak
  • Jean-Paul Auray
  • Luca Crivelli
  • Lance Richard
  • Paul Howard
Current Opinion


Currently, there are in excess of 5000 rare diseases, that is, diseases that affect only a small proportion of a given population. The majority of these conditions lack appropriate treatments for a variety of reasons, including limited markets for the development of new pharmaceutical products coupled with prohibitively high costs associated with research, manufacturing and marketing. This paper discusses the issues associated with the equity of and access to orphan drugs used in rare diseases. Options for healthcare policy across Europe are presented. The interest in using robust evaluation parameters is emphasized, despite this not being in agreement with the use of artificial indicators such as quality-adjusted life years (QALYs), which appear to lead to divergent and erroneous results. New decision-making methods must govern the policy, statistics, and economics relevant to the use of orphan drugs in rare diseases.


Rare Disease Orphan Drug Severe Combine Immunodeficiency Disease Synthetic Indicator Rare Disease Patient 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Preparation of this review was made possible by financial support from Serono International SA, Switzerland. The authors have provided no information on conflicts of interest directly relevant to the content of this study.


  1. 1.
    Scientific and technological options assessment European parliament. Orphan drugs [online]. Available from URL: [Accessed 2003 Sep 1]
  2. 2.
    Haffner ME. Orphan products: origins, progress, and prospects. Annu Rev Pharmacol Toxicol 1991; 31: 603–20PubMedCrossRefGoogle Scholar
  3. 3.
    Haffner ME, Kelsey JV. Evaluation of orphan products by the US Food and Drug Administration. Int J Technol Assess Health Care 1992; 8: 647–57PubMedCrossRefGoogle Scholar
  4. 4.
    US Food and Drug Administration. How to apply for designation as an orphan product [online]. Available from URL: [Accessed 2003 May 1]
  5. 5.
    Myers AS. Orphan drugs: the current situation in the United States, Europe, and Asia. Drug Inf J 1997; 31: 101–4CrossRefGoogle Scholar
  6. 6.
    Haffner ME. Orphan drug development update. Drug Inf J 1996; 30: 29–34CrossRefGoogle Scholar
  7. 7.
    Eur-Lex. Regulation (EC) No. 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products: Official Journal of the European Communities 22/1/2000 L18 Vol. 43 [online]. Available from URL: [Accessed 2003 Sep 1]
  8. 8.
    Eur-Lex. Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products [online]. Available from URL: [Accessed 2003 May 1]
  9. 9.
    UNAIDS, WHO. AIDS epidemic update - December 2001 [online]. Available from URL: [Accessed 2001 Dec 1]
  10. 10.
    US Food and Drug Administration. NDA supplements approved under subpart H [online]. Available from URL: [Accessed 2003 May 1]
  11. 11.
    Zweifel P, Crivelli L. Price regulation of drugs: lessons from Germany. J Reg Econ 1996; 10(3): 257–73CrossRefGoogle Scholar
  12. 12.
    Saltman RB, Figueras J, Sakellarides C. Critical challenges for healthcare reform in Europe (State of health). Buckingham: Open University Press, 1998Google Scholar
  13. 13.
    Lawton V. Competitiveness, innovation and new market dynamics. Eurohealth 2001; 7(2): 15–8Google Scholar
  14. 14.
    Bosanquet N, Atun R. 1998–2001 in the pharma industry: from deep river to white water rapids. Eur Bus J 2001: 13(2): 74–82Google Scholar
  15. 15.
    Randall E. The European Union and health policy. London: Palgrave Macmillan, 2000CrossRefGoogle Scholar
  16. 16.
    Mossialos E, Le Grand J, editors. Health care and cost containment in the European Union (European political economy). Aldershot: Ashgate Publishing Ltd, 1999Google Scholar
  17. 17.
    National Institute for Clinical Excellence. Beta interferon and glatiramer acetate for the treatment of multiple sclerosis: technology appraisal guidance number 32 [online]. Available from URL: [Accessed 2003 May 2]
  18. 18.
    AFSSAPS. Article L5121.12 of the French Code of Public Health–Decree 98-578 of the 9th July 1998 concerning the ‘Autorisations Temporaires d’Utilisation’ [online]. Available from URL: [Accessed 2003 Sep 9]
  19. 19.
    Berk ML, Monheit AC. The concentration of health care expenditures, revisited. Health Aff (Millwood) 2001 Mar/Apr; 20(2): 9–17CrossRefGoogle Scholar
  20. 20.
    Choudhry N, Slaughter P, Sykora K, et al. Distributional dilemmas in health policy: large benefits for a few or smaller benefits for many? J Health Serv Res Policy 1997 Oct; 2(4): 212–36PubMedGoogle Scholar
  21. 21.
    Maynard A, Cookson R. Money or your life? The health-wealth trade-off in pharmaceutical regulation. J Health Serv Res Policy 2001 Jul; 6(3): 186–9PubMedCrossRefGoogle Scholar
  22. 22.
    Kanavos P, McKee M. Cross-border issues in the provision of health services: are we moving towards a European health care policy? J Health Serv Res Policy 2000 Oct; 5(4): 231–6PubMedGoogle Scholar
  23. 23.
    Smith A. The theory of moral sentiments. Cambridge: Harvard University Press, 1976Google Scholar
  24. 24.
    Domenighetti G, Maggi J. Définition des priorités sanitaires et rationnement. L’opinion des Suisses, des administrateurs hospitaliers et des départements sanitaires des Cantons. Cahiers de recherche économique n. 00.01. Ecole des HEC. Lausanne: Université de Lausanne, 2000Google Scholar
  25. 25.
    Mooney GH. Key issues in health economics. New York: Harvester-Wheatsheaf, 1994Google Scholar
  26. 26.
    National Institute for Clinical Excellence. Guidance on the use of Sibutramine for the treatment of Obesity in Adults [online]. 2001. Available from URL: [Accessed 2003 Sep 1]
  27. 27.
    National Institute for Clinical Excellence. Guidance on the use of taxanes for breast cancer: 2000 [online]. Available from URL: [Accessed 2003 Sep 1]
  28. 28.
    Robinson R. Cost-utility analysis. BMJ 1993 Oct; 307(6908): 859–62PubMedCrossRefGoogle Scholar
  29. 29.
    Dura G, Auray JP, Beresniak A, et al. Limitations of the methods used for calculating quality-adjusted life-year values. Pharmacoeconomics 2002; 20(7): 463–73CrossRefGoogle Scholar
  30. 30.
    Gerard K, Mooney G. QALY league tables: handle with care. Health Econ 1993; 2: 59–64PubMedCrossRefGoogle Scholar
  31. 31.
    Pliskin JS, Shepard DS, Weinstein MC. Utility function for life years and health status. Oper Res 1980; 28: 206–23CrossRefGoogle Scholar
  32. 32.
    Margolis H. Selfishness, altruism and rationality: a theory of social choice. Chicago (IL): University of Chicago Press, 1984Google Scholar
  33. 33.
    Ryan M, Shackley P. Assessing the benefits of health care: how far should we go? Qual Health Care 1995; 4: 207–13PubMedCrossRefGoogle Scholar
  34. 34.
    Nord E, Pinto JL, Richardson J, et al. Incorporating societal concerns for fairness in numerical valutations of health programmes. Health Econ 1999; 8(1): 25–39PubMedCrossRefGoogle Scholar
  35. 35.
    Evans RG, Wolfson AD. Faith, hope and charity: health care in the utility function, [Department of Economics Discussion paper #80-46]. Vancouver (BC): University of British Columbia, 1980Google Scholar
  36. 36.
    Fox AW. ‘High-profile’ product withdrawals in the United States. Int J Pharmaceut Med 2001; 15: 27–30CrossRefGoogle Scholar
  37. 37.
    de Pouvourville G. Innovation as a major research issue in health economics. Eur J Health Econ; 2(4): 139–41Google Scholar

Copyright information

© Adis Data Information BV 2003

Authors and Affiliations

  • Nick Bosanquet
    • 1
  • Gianfranco Domenighetti
    • 2
  • Ariel Beresniak
    • 3
  • Jean-Paul Auray
    • 4
  • Luca Crivelli
    • 5
  • Lance Richard
    • 6
  • Paul Howard
    • 6
  1. 1.Faculty of MedicineImperial College of Science, Technology and MedicineLondonEngland
  2. 2.Department of Econometrics and Political Economy (DEEP), Institute of Economics and Health Management (IEMS)University of LausanneLausanneSwitzerland
  3. 3.Corporate PharmacoeconomicsSerono International SAGenevaSwitzerland
  4. 4.National Center of Scientific Research (CNRS)University of Lyon 1LyonFrance
  5. 5.Department of Economics and ManagementUniversity of Applied Sciences of Southern Switzerland, University of LuganoLuganoSwitzerland
  6. 6.Heron Evidence Development LtdStevenageEngland

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