There are more than 7,000 rare diseases, affect over 30 million people in the United States (US) and 26 million people in the European Union (EU). Many of these rare diseases are life-threatening and do not have known treatments.

The Food and Drug Administration (FDA) and the European Medicines Agency (EMA) provides sponsors of rare disease trials with incentives to develop orphan drugs, such as, tax credit and protocol assistance, which is available from the EMA at a reduced cost for designated orphan drugs.

Such incentives are necessary to help organisers of orphan drug trials face the number of unique challenges associated with developing treatments for rare diseases, including; small patient populations, misdiagnosis, disease heterogeneity and a lack of consensus on clinical outcome measures.

In this white paper, ICON’s experts discuss the intricacies of orphan drug development and the challenges that both the US and EU experience, including the EU concept of significant benefit criterion. The paper also explores the potential of expedited drug development pathways and the programs offered by the EMA and FDA.