REFERENCES

1. Dawkins HJS, Draghia-Akli R, Lasko P, et al. International Rare Diseases Research Consortium (IRDiRC). Progress in rare diseases research 2010-2016: an IRDiRC perspective. Clin Transl Sci 2018;11:11-20.

2. World Health Organization. Rare diseases - background paper. Available from: https://www.who.int/medicines/areas/priority_medicines/Ch6_19Rare.pdf [Last accessed on 20 Oct 2021].

3. Orphanet. Orphanet report series - prevalence and incidence of rare diseases. Available from: https://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf [Last accessed on 20 Oct 2021].

4. Vision & Goals. Available from: https://irdirc.org/about-us/vision-goals/ [Last accessed on 20 Oct 2021].

5. Austin CP, Cutillo CM, Lau LPL, et al. International Rare Diseases Research Consortium (IRDiRC). Future of rare diseases research 2017-2027: an IRDiRC perspective. Clin Transl Sci 2018;11:21-7.

6. IRDiRC. Therapies Scientific Committee (TSC). Available from: https://irdirc.org/about-us/people-organisation/scientific-committees/tsc/ [Last accessed on 20 Oct 2021].

7. Orphan Drug Act - relevant excerpts. Available from: https://www.fda.gov/industry/designating-orphan-product-drugs-and-biological-products/orphan-drug-act-relevant-excerpts [Last accessed on 20 Oct 2021].

8. European Commission. Regulation No 141/2000 of the European Parliament and of the Council on orphan medical products. Available from: https://ec.europa.eu/health/sites/health/files/files/eudralex/vol-1/reg_2000_141_cons-2009-07/reg_2000_141_cons-2009-07_en.pdf [Last accessed on 20 Oct 2021].

9. Boycott KM, Ardigó D. Addressing challenges in the diagnosis and treatment of rare genetic diseases. Nat Rev Drug Discov 2018;17:151-2.

10. RARE Facts. Global Genes. Available from: https://globalgenes.org/rare-disease-facts/ [Last accessed on 20 Oct 2021].

11. Gahl WA, Wong-Rieger D, Hivert V, Yang R, Zanello G, Groft S. Essential list of medicinal products for rare diseases: recommendations from the IRDiRC Rare Disease Treatment Access Working Group. Orphanet J Rare Dis 2021;16:308.

12. Day S, Jonker AH, Lau LPL, et al. Recommendations for the design of small population clinical trials. Orphanet J Rare Dis 2018;13:195.

13. Morel T, Cano SJ. Measuring what matters to rare disease patients - reflections on the work by the IRDiRC taskforce on patient-centered outcome measures. Orphanet J Rare Dis 2017;12:171.

14. The innovation imperative: drug development. EIU Parexel. Available from: https://druginnovation.eiu.com/ [Last accessed on 20 Oct 2021].

15. Hechtelt Jonker A, Hivert V, Gabaldo M, et al. Boosting delivery of rare disease therapies: the IRDiRC Orphan Drug Development Guidebook. Nat Rev Drug Discov 2020;19:495-6.

16. Malinowski KP, Kawalec P, Trabka W, Sowada C, Pilc A. Reimbursement of orphan drugs in Europe in relation to the type of authorization by the European Medicines Agency and the Decision Making based on Health Technology Assessment. Front Pharmacol 2018;9:1263.

17. Nicod E, Annemans L, Bucsics A, Lee A, Upadhyaya S, Facey K. HTA programme response to the challenges of dealing with orphan medicinal products: process evaluation in selected European countries. Health Policy 2019;123:140-51.

18. Precision Medicine. Available from: https://www.fda.gov/medical-devices/vitro-diagnostics/precision-medicine [Last accessed on 20 Oct 2021].

19. IRDiRC Orphan Drug Development Guide. Available from: https://orphandrugguide.org/ [Last accessed on 20 Oct 2021].

20. EJP RD - European Joint Programme on rare diseases. Available from: https://www.ejprarediseases.org/ [Last accessed on 20 Oct 2021].

21. Orphan Drug Development Guidebook Materials. Available from: https://irdirc.org/orphan-drug-development-guidebook-materials/ [Last accessed on 20 Oct 2021].

22. Southall NT, Natarajan M, Lau LPL, et al. IRDiRC Data Mining and Repurposing Task Force. The use or generation of biomedical data and existing medicines to discover and establish new treatments for patients with rare diseases - recommendations of the IRDiRC Data Mining and Repurposing Task Force. Orphanet J Rare Dis 2019;14:225.

23. DAUE R. Commission Expert Group on safe and timely access to medicines for patients (“STAMP”). Available from: https://ec.europa.eu/health/documents/pharmaceutical-committee/stamp_en [Last accessed on 20 Oct 2021].

24. Drug repurposing screening for rare and neglected diseases. Available from: https://ncats.nih.gov/trnd/projects/drug-repurposing [Last accessed on 20 Oct 2021].