A disease is defined as rare if the prevalence is fewer than 200,000 in the United States. It is estimated that there are more than 7,000 rare diseases, which collectively affect 30 million Americans. This diverse and complex disease area poses challenges for patients, caregivers, regulators, drug developers and other stakeholders.

Bo Yang is the Vice President, Biometrics and Real World Evidence at Vertex Pharmaceuticals, USA.

Yang Song is the Executive Director, Biostatistics Group Head of Pipeline Development at Vertex Pharmaceuticals, USA.

Yijie Zhou is the Executive Director, Real World Statistics and Analytics at Vertex Pharmaceuticals, USA.

1. Introduction to Rare Disease Therapy Development 2. Challenges and Opportunities in Rare Disease Drug 3. Developing Drugs for Rare Diseases: Regulatory Strategies 4. Clinical Trial Design and Analysis Considerations for Rare Diseases 5. Use of Real-World Evidence to Support Drug Development 6. Clinical Development of Pediatric Program within Rare Diseases 7. Use of Modeling and Simulation in Support of Drug Development for Rare Diseases 8. Case Studies of Rare Disease Drug Development