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Boosting delivery of rare disease therapies: the IRDiRC Orphan Drug Development Guidebook
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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
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).
Boycott, K. M. & Ardigó, D. Addressing challenges in the diagnosis and treatment of rare genetic diseases. Nat. Rev. Drug Discov. 17, 151–152 (2018).
Austin, C. P. et al. Future of rare diseases research 2017–2027: An IRDiRC perspective. Clin. Transl. Sci. 11, 21–27 (2018).
Day, S. et al. Recommendations for the design of small population clinical trials. Orphanet J. Rare Dis. 13, 195 (2018).
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).
Supplementary Information
Competing Interests
The authors declare no competing interests.