REFERENCES

1. Rath A, Salamon V, Peixoto S, et al. A systematic literature review of evidence-based clinical practice for rare diseases: what are the perceived and real barriers for improving the evidence and how can they be overcome? Trials. 2017;18:556.

2. Griggs RC, Batshaw M, Dunkle M, et al. Rare Diseases Clinical Research Network. Clinical research for rare disease: opportunities, challenges, and solutions. Mol Genet Metab. 2009;96:20-6.

3. 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.

4. Del Álamo M, Bührer C, Fisher D, et al. Identifying obstacles hindering the conduct of academic-sponsored trials for drug repurposing on rare-diseases: an analysis of six use cases. Trials. 2022;23:783.

5. den Berg S, de Visser S, Leufkens HGM, Hollak CEM. Drug repurposing for rare diseases: a role for academia. Front Pharmacol. 2021;12:746987.

6. Del Álamo M, Lémeret S, Nieto C, et al. Funding multinational investigator-initiated clinical studies in Europe: why and how? Trials. 2024;25:689.

7. Djurisic S, Rath A, Gaber S, et al. Barriers to the conduct of randomised clinical trials within all disease areas. Trials. 2017;18:360.

8. Rare diseases clinical trials toolkit. Available from: https://ecrin.org/rare-diseases-clinical-trials-toolbox. [Last accessed on 20 Mar 2025].

9. The European Parlament and the European Union. Regulation (EU) No 536/2014 OF the european parliament and of the council of 16 April 2014 on clinical trials on medicinal products for human use, and repealing directive 2001/20/EC. Published online 2014. Available from: https://health.ec.europa.eu/medicinal-products/clinical-trials/clinical-trials-regulation-eu-no-5362014_en. [Last accessed on 21 Mar 2025].

10. EU CORDIS. Available from: https://cordis.europa.eu/. [Last accessed on 20 Mar 2025].

11. IRDiRC recognized resources. Available from: https://irdirc.org/resources-2/irdirc-recognized-resources/. [Last accessed on 20 Mar 2025].

12. ECRIN Rare Diseases Toolbox Full List of Tools. Available from: https://ecrin.org/sites/default/files/Ecrin/pdf/Toolkit_November_2024.pdf. [Last accessed on 20 Mar 2025].

13. ECRIN rare diseases toolbox instructional video. Available from: https://www.youtube.com/watch?v=_f8y3WUFGTA. [Last accessed on 20 Mar 2025].

14. 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.

15. NIA NIH clinical research study investigator’s toolbox. Available from: https://www.nia.nih.gov/research/grants-funding/ocr/clinical-research-study-investigators-toolbox. [Last accessed on 20 Mar 2025].

16. NIHR clinical trials toolkit. Available from: https://www.ct-toolkit.ac.uk/. [Last accessed on 20 Mar 2025].

17. Malaria clinical trials toolkit. Available from: https://www.iddo.org/wwarn/tools-resources/malaria-clinical-trials-toolkit. [Last accessed on 20 Mar 2025].

18. ICH harmonised guideline. General considerations for clinical studies E8 (R1). 2021. Available from: https://database.ich.org/sites/default/files/E8-R1_Guideline_Step4_2021_1006.pdf. [Last accessed on 20 Mar 2025].

19. Chan AW, Tetzlaff JM, Gøtzsche PC, et al. SPIRIT 2013 explanation and elaboration: guidance for protocols of clinical trials. BMJ. 2013;346:e7586.

20. Chan AW, Tetzlaff JM, Altman DG, et al. SPIRIT 2013 statement: defining standard protocol items for clinical trials. Ann Intern Med. 2013;158:200-7.

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

22. Hilgers RD, Bogdan M, Burman CF, et al. Lessons learned from IDeAl-33 recommendations from the IDeAl-net about design and analysis of small population clinical trials. Orphanet J Rare Dis. 2018;13:77.

23. Mitroiu M, Oude Rengerink K, Pontes C, et al. Applicability and added value of novel methods to improve drug development in rare diseases. Orphanet J Rare Dis. 2018;13:200.

24. Friede T, Posch M, Zohar S, et al. Recent advances in methodology for clinical trials in small populations: the InSPiRe project. Orphanet J Rare Dis. 2018;13:186.

25. ERICA PROMs Repository. Available from: https://erica-rd.eu/work-packages/patient-centred-research/proms-repository/. [Last accessed on 20 Mar 2025].

26. ERA4Health partnership. Available from: https://era4health.eu/. [Last accessed on 20 Mar 2025].

27. NIRO. Navigating innovation and research opportunities. Available from: https://niroglobal.com/. [Last accessed on 20 Mar 2025].

28. Scientify research. Available from: https://www.scientifyresearch.org/. [Last accessed on 20 Mar 2025].

29. ACT EU. Accelerating clinical trials in the EU. Available from: https://accelerating-clinical-trials.europa.eu/index_en. [Last accessed on 20 Mar 2025].

Rare Disease and Orphan Drugs Journal
ISSN 2771-2893 (Online)
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