Use of Real-World Data and Real-World Evidence in Rare Disease Drug Development: A Statistical Perspective

Area of Science:

• Biostatistics
• Clinical Pharmacology
• Regulatory Science

Background:

• Real-world data (RWD) and real-world evidence (RWE) are increasingly vital in medical product development, particularly for rare diseases.
• Challenges in rare disease drug development necessitate innovative approaches, including the use of RWD/RWE.

Purpose of the Study:

• To review the roles of RWD and RWE in clinical trials for rare disease drug development.
• To summarize regulatory guidance and current practices for RWD/RWE utilization.
• To describe a learning roadmap and present case studies for RWD/RWE application in rare disease research.

Main Methods:

• Review of regulatory guidance documents and frameworks.
• Analysis of current practices in natural history studies and clinical trial design, conduct, and analysis.
• Description of a targeted learning roadmap.
• Inclusion of case studies demonstrating RWD/RWE application.

Main Results:

• RWD and RWE offer significant potential to support rare disease drug development and regulatory decision-making.
• Effective strategies exist to address challenges in utilizing RWD/RWE for rare diseases.
• Case studies illustrate successful applications in natural history studies and marketing authorization.

Conclusions:

• RWD and RWE are essential tools for advancing drug development in rare diseases.
• A structured approach, including a learning roadmap, can optimize the use of RWD/RWE.
• Continued exploration and application of RWD/RWE are critical for bringing therapies to patients faster.