Rare and Orphan Diseases

This book provides a practical guide to drug development in rare diseases. It covers key topics including biomarkers and surrogate endpoints, disease genetics and biology, innovative clinical trial designs, natural history studies, real-world evidence, data-sharing approaches across common mechanistic pathways, and statistical and quantitative methodologies, including platform trials. A dedicated section presents real-world case studies of novel therapies, highlighting innovative approaches, lessons learned, and emerging best practices. Although focused on rare diseases, the concepts and methodologies described throughout the book are broadly applicable and may benefit researchers in both rare and more common diseases across industry, academia, and clinical practice.