Rare disease day was celebrated on the rarest day in the year: February 29th, 2020. There are 7000 known rare diseases, defined as diseases that affect fewer than 200,000 people in the USA. For rare diseases, the challenge is that it is often not feasible to conduct traditional randomized phase III clinical trials. Thus, RWD and RWE have been playing an important role in supporting regulatory decision.

In a recent review (Oct 2019), the researchers from Sanofi, from Pharmacovigilance and Safety of Ascentage Pharma Group, from Harvard Medical School, from Biopharma and Hyman, Phelps, & McNamara, P.C., used three case examples—cerliponase alfa, asfotase alfa and uridine triacetate—to illustrate how RWD from disease registries, medical records with chart review, and literature, respectively, have been used to generate RWE to support regulatory decisions for selected rare diseases.

The major need observed by this review is that it is useful to standardize data collection for outcome measures in patient registries in order to generate valid RWE. Guidance from the FDA for uniform data collection in registries may be helpful to ensure data collected are suitable to meet regulatory requirements. The use of RWD and RWE for rare disease drug development and approvals will continue to evolve, for example with mobile technologies, wearables and biosensors.