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Boosting delivery of rare disease therapies: the IRDiRC Orphan Drug Development Guidebook

The International Rare Diseases Research Consortium (IRDiRC) has created a Guidebook to facilitate drug development for rare diseases by organizing available tools into a standardized framework.
  1. Anneliene Hechtelt Jonker

    1. IRDiRC, Paris, France.

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  2. Virginie Hivert

    1. IRDiRC, Paris, France; EURORDIS-Rare Diseases Europe, Paris, France.

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  3. Michela Gabaldo

    1. IRDiRC, Paris, France; Fondazione Telethon, Milan, Italy.

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  4. Liliana Batista

    1. IRDiRC, Paris, France; Chiesi Farmaceutici S.p.A., Parma, Italy.

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  5. Daniel O’Connor

    1. IRDiRC, Paris, France; Medicines and Healthcare products Regulatory Agency, London, UK.

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  6. Annemieke Aartsma-Rus

    1. IRDiRC, Paris, France; Leiden University Medical Centre, Leiden, The Netherlands.

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  7. Simon Day

    1. IRDiRC, Paris, France; Clinical Trials Consulting and Training Limited, North Marston, UK.

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  8. Ken Sakushima

    1. IRDiRC, Paris, France; Pharmaceuticals and Medical Devices Agency, Tokyo, Japan.

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  9. Diego Ardigo

    1. IRDiRC, Paris, France; Chiesi Farmaceutici S.p.A., Parma, Italy.

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Millions of people worldwide are affected by rare diseases, but it is estimated that fewer than 5% of the known rare diseases have at least one approved pharmacotherapy1. Regulatory and economic incentives for the development of drugs for rare diseases (orphan drugs), have led to a steady rise in the number of such treatments2, but at the current pace, the International Rare Diseases Research Consortium (IRDiRC)’s goal3 of 1,000 new rare disease therapies by 2027 will not be reached.

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Nature Reviews Drug Discovery 19, 495-496 (2020)

doi: https://doi.org/10.1038/d41573-020-00060-w

Acknowledgements

This article was written on behalf of the IRDiRC ODDG Task Force and Therapies Scientific Committee. The members and contributors beyond the authors were A. Aiuti, D. Athanasiou, L. Conklin, S. Cheng, R. Conwit, M. Driessens, M. Haffner, E. Hoffman, S. Jethwa, E. Matsuki, A. Mingorance, T. Morel, A. Pariser, C. Pontes, M. Scarpa and R. Yang. We would also like to thank A.-L. Pham-Hung d’Alexandry d’Orengiani for her support. The work was supported by the European contracts “SUPPORT-IRDiRC” (N° 305207) and “European Joint Programme on Rare Diseases”(N°825575).

Disclaimer

The views expressed in this article are the personal views of the author(s) and may not be understood as being made on behalf of their employer(s)/organization(s).

References

  1. Nguengang Wakap, S. et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur. J. Hum. Genet. 28, 165–173 (2020).

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  2. Boycott, K. M. & Ardigó, D. Addressing challenges in the diagnosis and treatment of rare genetic diseases. Nat. Rev. Drug Discov. 17, 151–152 (2018).

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  3. Austin, C. P. et al. Future of rare diseases research 2017–2027: An IRDiRC perspective. Clin. Transl. Sci. 11, 21–27 (2018).

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  4. Day, S. et al. Recommendations for the design of small population clinical trials. Orphanet J. Rare Dis. 13, 195 (2018).

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  5. Morel, T. et al. Measuring what matters to rare disease patients - reflections on the work by the IRDiRC taskforce on patient-centered outcome measures. Orphanet J. Rare Dis. 12, 171 (2017).

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Supplementary Information

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Competing Interests

The authors declare no competing interests.

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