This course presents an overview of approaches to generate Real World Evidence (RWE) for Rare Diseases (RD) drug development, with a focus on identifying adequate data source/s and innovative methods. RWE generation is required at various stages of RD drug development, yet it faces specific challenges related to the very small number of patients, disease heterogeneity, disease coding, and frequent lack of treatment standards. The course will start with an overview of data sources and data collection approaches to capture relevant RD patient populations and information, describe data and methods to measure the prevalence and incidence of RD, and present methods for generating evidence to evaluate effectiveness and safety of RD drugs. These include methods based on target trial emulation, Natural History Studies and statistical methods for borrowing evidence. Course faculty will present real-world case studies to facilitate discussion.
