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. 2020 Aug;19(8):495-496.
doi: 10.1038/d41573-020-00060-w.

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

Anneliene Hechtelt Jonker, Virginie Hivert, Michela Gabaldo, Liliana Batista, Daniel O'Connor, Annemieke Aartsma-Rus, Simon Day, Ken Sakushima, Diego Ardigo

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

Anneliene Hechtelt Jonker et al. Nat Rev Drug Discov. 2020 Aug.
No abstract available

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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). - PubMed - DOI
    1. Boycott, K. M. & Ardigó, D. Addressing challenges in the diagnosis and treatment of rare genetic diseases. Nat. Rev. Drug Discov. 17, 151–152 (2018). - PubMed - DOI
    1. Austin, C. P. et al. Future of rare diseases research 2017–2027: An IRDiRC perspective. Clin. Transl. Sci. 11, 21–27 (2018). - PubMed - DOI
    1. Day, S. et al. Recommendations for the design of small population clinical trials. Orphanet J. Rare Dis. 13, 195 (2018). - PubMed - DOI - PMC
    1. 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). - PubMed - DOI - PMC

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