Introduction

Finding cures for pediatric and rare disease is now a global health priority. According to Orphanet, a 37-country network, reported more than 6300 unique rare diseases, affecting 300 million people worldwide, about 72% of which are genetic and about 70% of which are exclusively pediatric onset. More than 90% of rare diseases are without an FDA-approved treatment. Rare diseases are numerous, heterogenous in nature, and geographically disparate. Given its limited patient pool, the success of advancing patient care and treatment options hinges on multi-stakeholders and interdisciplinary collaboration. In this introductory chapter, various public policy, regulatory initiatives that have been implemented in US and rest of the world to help reduce the barriers are introduced. Additionally, various stakeholders that are critical for the drug development success and their roles in the process are discussed. The rest of the book will dive deep into providing a systematic framework that require a collaborative infrastructure including natural histories, diagnosis criteria, identification of clinical endpoints and engagement with the stakeholders. Each of the book chapters will discuss the clinical trial design options that have successfully brought drugs to market in small populations of pediatric and rare diseases.