The Challenges and Opportunities of Rare Disease Drug Development

New therapeutics development in rare diseases presents both opportunities and complexities. Because of the small patient pool available in these indications, there are challenges in designing and conducting clinical trials and the data interpretation that follows, and the ultimate path to registration.

The top 3 critical downfalls in rare diseases development include

Poor understanding of the disease process and natural history

Incomplete understanding of clinically meaningful endpoints

Inability to assess clinical benefit and achieve full approval

This whitepaper by drug development experts, Drs. Julie Bullock and Rajesh Krishna, reflect on some of these challenges and opportunities in rare diseases drug development.

Key learning points

• An overview of the biology and genetics of rare diseases 
• How to leverage regulatory frameworks to reduce regulatory uncertainty 
• The challenges of the accelerated approval mechanism  
• How to streamline rare disease drug development using model-informed drug development