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.

Mariam A. Ahmed, B.Pharm, MS, PhD, FCCP is a Global Clinical Pharmacology Lead at Takeda Pharmaceuticals, where she supports global drug development programs. She has close to 15 years of experience with a career spanning academia, US FDA and pharmaceutical industry. Dr. Ahmed has spearheaded numerous initiatives aimed at addressing the unique challenges of rare disease drug development. She is the founder of the rare disease community at the American Society for Clinical Pharmacology & Therapeutics (ASCPT) and has led numerous research and review articles on rare disease drug development. She is an ACCP Fellow.

Amitava Mitra, PhD, FAAPS is Vice President and Head of Clinical Pharmacology at Kura Oncology, where he supports global drug development programs. He has close to 20 years of experience in the pharmaceutical industry supporting various therapeutic areas and has previously worked at Merck, Novartis and J&J. Amitava has a PhD in Pharmaceutical Sciences from University of Maryland, Baltimore. Amitava’s main research interests include clinical pharmacology, modeling & simulation, pharmacokinetics, and biopharmaceutics. He has interacted with several regulatory agencies like FDA, EMA and PMDA on these topics. Amitava has published 79 research and review articles and has more than 39 podium presentations in national & international conferences. He is an AAPS Fellow

Rajesh Krishna is a scientific key opinion leader with three decades of experience in drug development, specializing in model-informed strategies for biologics, vaccines, and small molecules.  Rajesh recently retired from his role as a Senior Distinguished Scientist at Certara, where he led strategic consulting and the CDDS centers of excellence.  Previously, he founded Merck’s quantitative clinical pharmacology department and held key roles at Aventis and Bristol-Myers Squibb. Rajesh holds a PhD in Pharmaceutical Sciences (University of British Columbia) and an MBA in Strategy and Innovation (Warwick).  Consistently recognized among the top 2% of influential scientists, his work includes 110+ publications, 91 posters, and 4 books.  He is an elected fellow of AAPS.