The Rare Disease Revolution

Rare disease drug development differs from traditional drug development in that the affected populations are usually very small, there is a higher occurrence in paediatric patients, and the presentation of the disease can be complicated. Real-world data studies play a key role in orphan and rare disease research, and emerging research approaches and real world evidence (RWE) are fulfilling critical patient needs faster. 

Pre- and post-approval observational studies (registries) can be both disease and drug specific, and are funded by pharma, academia and/or patient associations. Often required by regulatory authorities to describe long-term patient safety and efficacy, these studies require special considerations for site recruitment and patient retention. There may not be established treatment standards, so the design of the registry studies may involve the use of the RWE approach to observe changes in clinical status over time rather than comparisons of drug effect relative to a placebo or comparator therapy. Real-world data studies help to identify patients for clinical trials, provide data about the disease’s natural history, empower treatment endpoint selection and patient profiling and help to describe drug efficacy and safety both pre and post-approval.

Analysing the retrospective data captured within a hybrid trial setting together with the prospective collection of data from physicians and patients, often provides the most complete treatment context for understanding the overall impact of rare disease treatment. 

ICON is an experienced partner who can help you to navigate the clinical development challenges in rare and orphan diseases. To speak to one of our experts, please contact us.

This blog is an edited version of “The Rare Disease Revolution” which appeared in the October 2018 edition of Applied Clinical Trials. To view the full article, please visit http://www.appliedclinicaltrialsonline.com.