Despite the transformative potential of treatments for systemic autoinflammatory diseases, these conditions remain underfunded and understudied. Urgent, coordinated action among stakeholders is needed to overcome regulatory and research barriers, as is innovation and advocacy for the development of effective therapies for these rare diseases.
References
Downing, N. S., Aminawung, J. A., Shah, N. D., Krumholz, H. M. & Ross, J. S. Clinical trial evidence supporting FDA approval of novel therapeutic agents, 2005-2012. J. Am. Med. Assoc. 311, 368 (2014).
European Medicines Agency. Clinical trials on human medicines. https://www.ema.europa.eu/en/human-regulatory/research-development/clinical-trials-human-medicines (accessed 3 August 2023).
Piskin, D. et al. Developing guidelines for ultrarare rheumatic disorders: a bumpy ride. Ann. Rheum. Dis. 81, 1203–1205 (2022).
Di Donato, G., d’Angelo, D. M., Breda, L. & Chiarelli, F. Monogenic autoinflammatory diseases: state of the art and future perspectives. Int. J. Mol. Sci. 22, 6360 (2021).
Romano, M. et al. The 2021 EULAR/American College of Rheumatology points to consider for diagnosis, management and monitoring of the interleukin-1 mediated autoinflammatory diseases: cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and deficiency of the interleukin-1 receptor antagonist. Ann. Rheum. Dis. 81, 907–921 (2022).
United States Congress. Orphan Drug Act of 1983. 96 Stat. 2049 (1983).
Brown, D. G. A Drug discovery perspective on FDA expedited development and incentive programs. J. Med. Chem. https://doi.org/acs.jmedchem.3c02165 (2024).
Yates, N. & Hinkel, J. The economics of moonshots: Value in rare disease drug development. Clin. Transl. Sci. 15, 809–812 (2022).
U.S. Food and Drug Administration. KINERET® (Anakinra) Injection, for Subcutaneous Use. https://www.accessdata.fda.gov/drugsatfda_docs/label/2012/103950s5136lbl.pdf (2020).
Arnold, D. D., Yalamanoglu, A. & Boyman, O. Systematic review of safety and efficacy of IL-1-targeted biologics in treating immune-mediated disorders. Front. Immunol. 13, 888392 (2022).
Acknowledgements
E.D. and R.G.M. are co-founders of TARN, N.M.Z. is a coordinator of TARN, and M.R. is a member of its steering committee. The authors would like to acknowledge other core steering committee members of TARN: S. Canna, F. Dedeoglu and K. Durrant. We also extend our gratitude to F. Garcia-Bournissen for invaluable contributions to the conceptualization of this Comment, which were pivotal in refining the arguments and perspectives explored.
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Zitoun, N.M., Demirkaya, E., Goldbach-Mansky, R. et al. Time for a new approach to drug development for rare systemic autoinflammatory diseases. Nat Rev Rheumatol 20, 317–318 (2024). https://doi.org/10.1038/s41584-024-01108-6
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DOI: https://doi.org/10.1038/s41584-024-01108-6
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