Designing clinical trials for rare diseases: unique challenges and opportunities

Orphan drug development is a rapidly expanding field. Nevertheless, clinical trials for rare diseases can present inherent challenges. Optimal study design and partnerships between academia

and industry are therefore required for the successful development, delivery and clinical approval of effective therapies in this group of disorders. Access through your institution Buy or

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during checkout ADDITIONAL ACCESS OPTIONS: * Log in * Learn about institutional subscriptions * Read our FAQs * Contact customer support 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). Article  Google Scholar  * Rosales, X. Q. et al. The North American

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& Kakkis, E. D. The multi-domain responder index: a novel analysis tool to capture a broader assessment of clinical benefit in heterogeneous complex rare diseases. _Orphanet J. Rare

Dis._ 16, 183 (2021). Article  Google Scholar  Download references ACKNOWLEDGEMENTS C.P. is supported by a Clore Duffield Foundation grant. R.D.S.P. is supported by a Medical Research

Council (UK) Clinician Scientist Fellowship (MR/S002065/1). R.D.S.P. and M.G.H. are funded by a Medical Research Council (UK) strategic award to establish an International Centre for Genomic

Medicine in Neuromuscular Diseases (ICGNMD) (MR/S005021/1). AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and

The National Hospital for Neurology and Neurosurgery, London, UK Chiara Pizzamiglio, Michael G. Hanna & Robert D. S. Pitceathly * Department of Genetics, Johns Hopkins University School

of Medicine, Baltimore, MD, USA Hilary J. Vernon * Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA Hilary J. Vernon Authors * Chiara Pizzamiglio View author

publications You can also search for this author inPubMed Google Scholar * Hilary J. Vernon View author publications You can also search for this author inPubMed Google Scholar * Michael G.

Hanna View author publications You can also search for this author inPubMed Google Scholar * Robert D. S. Pitceathly View author publications You can also search for this author inPubMed 

Google Scholar CORRESPONDING AUTHOR Correspondence to Robert D. S. Pitceathly. ETHICS DECLARATIONS COMPETING INTERESTS The authors declare no competing interests. RIGHTS AND PERMISSIONS

Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Pizzamiglio, C., Vernon, H.J., Hanna, M.G. _et al._ Designing clinical trials for rare diseases: unique challenges and

opportunities. _Nat Rev Methods Primers_ 2, 13 (2022). https://doi.org/10.1038/s43586-022-00100-2 Download citation * Published: 10 March 2022 * DOI:

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