罕见病药物开发的挑战与机遇

罕见病的新疗法开发既是机遇，也很复杂。由于这些适应症中可用的患者群体较小，因此在设计、进行临床试验及随后的数据解释以及最终的注册道路上都面临着挑战。

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