Using Real-World Data and Real-World Evidence to Support Rare Disease Programs

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A key challenge of developing therapies for rare diseases is the availability of relevant data. With small, often geographically-dispersed patient populations, natural history information is typically sparse or even unknown. Without this data, it may be difficult to identify biomarkers for measuring drug activity or to define clinical trial endpoints or outcome measurements. Consequently, sponsors may need to look beyond traditional randomized clinical trials to support their development programs.

In recent years, the FDA and EMA have begun to embrace the concept of using real-world data (RWD) or real-world evidence (RWE) to bridge knowledge gaps in rare disease research and development. For instance, if including a placebo arm is deemed unethical, a sponsor may be able to use RWD and RWE as a control or a comparator.

In this guide, we explore how RWD and RWE can be leveraged to address data challenges and support regulatory decision-making for rare diseases.