Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Opinion
  • Published:

Rare diseases, orphan drugs and their regulation: questions and misconceptions

Nature Reviews Drug Discovery volume 9, pages 921–929 (2010)Cite this article

Subjects

Abstract

Sustained advocacy efforts driven by patients' organizations to make rare diseases a health priority have led to regulatory and economic incentives for industry to develop drugs for these diseases, known as orphan drugs. These incentives, enacted in regulations first introduced in the United States in 1983 and later in Japan, Europe and elsewhere, have resulted in substantial improvements in the treatment for patients with a range of rare diseases. However, the advent of orphan drug development has also triggered several questions, from the definition of rarity to the pricing of orphan drugs and their impact on health-care systems. This article provides an industry perspective on some of the common questions and misconceptions related to orphan drug development and its regulation, with the aim of facilitating future progress in the field.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

References

  1. Haffner, M. E. Adopting orphan drugs — two dozen years of treating rare diseases. N. Engl. J. Med. 354, 445–447 (2006).

    Article  CAS  Google Scholar 

  2. Cheung R. Y., Cohen J. C. & Illingworth P. Orphan drug policies: implications for the United States, Canada and developing countries. Health Law J. 12, 183–200 (2004).

    PubMed  Google Scholar 

  3. EURORDIS. Orphan drugs: rising to the challenge to ensure a better future for 30 million patients in Europe. EURORDIS website [online], (2009).

  4. EURORDIS. About rare diseases. EURORDIS website [online], (2010).

  5. La Revue Prescire – Enquête. Médicaments pour les maladies rares: bilan contrasté en Europe — Synthèse élaborée collectivement par la Rédaction. La Revue Prescire 26, 781 (2006) (in French).

  6. European Medicines Agency. COMP report to the Commission in relation to article 10 of regulation 141/2000 on orphan medicinal products. European Medicines Agency website [online], (2005).

  7. Heemstra H. H. From Research on rare diseases to new orphan drug development. Thesis, Utrecht Univ., Netherlands (2009).

    Google Scholar 

  8. Wellman-Labadie, O. & Zhou, Y. The US Orphan Drug Act: rare disease research stimulator or commercial opportunity? Health Policy 95, 216–228 (2010).

    Article  Google Scholar 

  9. CRA International. The current state of innovation in the pharmaceutical industry. European Federation of Pharmaceutical Industries and Associations website [online], (2008).

  10. Paul, S. M. et al. How to improve R.&D productivity: the pharmaceutical industry's grand challenge. Nature Rev. Drug Discov. 9, 203–214 (2010).

    Article  CAS  Google Scholar 

  11. Joppi, J. et al. Orphan drug development is not taking off. Br. J. Clin. Pharm. 67, 494–502 (2009).

    Article  CAS  Google Scholar 

  12. Hirschhorn, R. & Reuser A. J. J. in The Metabolic & Molecular Bases of Inherited Diseases 8th edn (eds Scriver C. R. et al.) 3395 (McGraw-Hill, New York, 2001).

    Google Scholar 

  13. Genzyme Corporation. Genzyme annual report 2004. (Genzyme, Cambridge, Massachusetts, 2004).

  14. Council of the European Union. Council Recommendation on action in the field of rare diseases. Council of the European Union website [online], (2009).

  15. The European Agency for the Evaluation of Medicinal Products. Status report on the implementation of the European Parliament legislation on orphan medicinal products. (EMEA, 2001).

  16. European Commission. Register of designated Orphan Medicinal Products. The European Commission website [online], (2010).

  17. Alcimed. Study for the European Commission: Study on Orphan Drugs, Part I and Part II. European Commission website [online, http://ec.europa.eu/health/files/orphanmp/doc/pricestudy/final_final_report_part_2_web_en.pdf], (2004).

  18. Eichler H. -G. et al. Relative efficacy of drugs: an emerging issue between regulatory agencies and third-party payers. Nature Rev. Drug Discov. 9, 277–291 (2010).

    Article  CAS  Google Scholar 

  19. Commission of the European Communities. Commission staff working document on the experience acquired as a result of the application of Regulation (EC) No 141/2000 on orphan medicinal products and account of the public health benefits obtained (document on the basis of Article 10 of Regulation (EC) No 141/2000). The European Commission website [online], (2006).

  20. The European Platform for Patients' Organisations, Science and Industry. The 8th workshop on partnering for rare disease therapy development: the reality of orphan medicines. The Platform for Patients' Organisations, Science and Industry website [online], (2007).

  21. US Food and Drug Administration. New resources for drug developers: the rare disease repurposing database. US Food and Drug Administration website [online], (2010).

  22. 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. The European Commission website [online], (2008).

  23. The Pharmaceutical Forum. Improving access to orphan drugs for all affected EU citizens. The European Commission website [online], (2008).

  24. Commission of the European Communities. Guideline on aspects of the application of Article 8(2) of Regulation (EC) No 141/2000: review of the period of market exclusivity of orphan medicinal products. The European Commission website [online], (2008).

Download references

Acknowledgements

The author would like to thank M. Dooms, Pharmacist, University Hospital of Leuven, Belgium, for helpful suggestions and C. De Bie of Genzyme Corporate Communications for editing the text.

Author information

Authors and Affiliations

  1. Erik Tambuyzer is at Genzyme, Ikaroslaan 53, B-1930, Zaventem, Belgium. erik.tambuyzer@genzyme.com,

    Erik Tambuyzer

Authors
  1. Erik Tambuyzer
    View author publications

    You can also search for this author in PubMed Google Scholar

Ethics declarations

Competing interests

The author is an employee of Genzyme Corporation. He has also been (and is until the end of 2010) the Chair (uncompensated) of the joint European Biopharmaceutical Enterprises–EuropaBio Task Force on Rare Diseases and Orphan Drugs. He is the Chair (uncompensated) of the Rare Diseases and Orphan Drugs Task Force of Pharma.be (Belgium).

Related links

Related links

FURTHER INFORMATION

EPPOSI (European Platform for Patients' Organizations, Science and Industry)

European Commission (The Orphan drugs strategy)

EURORDIS

ICORD

National Institutes of Health, United States

NORD

The Orphanet database

Rights and permissions

Reprints and permissions

About this article

Cite this article

Tambuyzer, E. Rare diseases, orphan drugs and their regulation: questions and misconceptions. Nat Rev Drug Discov 9, 921–929 (2010). https://doi.org/10.1038/nrd3275

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/nrd3275

This article is cited by

Search

Advanced search

Quick links

Nature Briefing: Translational Research

Sign up for the Nature Briefing: Translational Research newsletter — top stories in biotechnology, drug discovery and pharma.

Get what matters in translational research, free to your inbox weekly. Sign up for Nature Briefing: Translational Research