Abstract

The heightened attention on rare diseases over the last decade has led to collaborations between regulatory agencies, research groups and patient advocacy groups. These partnerships have accelerated the advancement of orphan drugs to diagnose, prevent and treat rare diseases. While there is progress, 95% of the over 10,000 distinct types of rare/genetic diseases still lack a US Food and Drug Administration (FDA) approved therapy.^[1] Through close engagement with patient advocacy groups and external stakeholders via the Rare Disease Innovation Hub, the FDA is identifying strategies to address cross-cutting scientific, regulatory and policy issues in rare disease development. These efforts are expanding regulatory science initiatives and creating opportunities for innovators to tailor development approaches for rare disease therapies.

This article explores the challenges unique to rare disease development and presents an overview of key FDA interaction opportunities and regulatory advancements. It emphasises how early and often engagement with the FDA can support more efficient drug development and help deliver meaningful outcomes for the rare disease population.