BACKGROUND: There are over 6000 rare diseases which affect approximately 8% of the global population. Up to 80% of rare diseases may result from a genetic anomaly. Interest in precision medicine has led to an increase in the number of clinical development programs focused on rare diseases. This has led to many promising drugs, biologics, and devices that are either in the pipeline or currently available to patients with these conditions. Despite the large number and variation in types of rare diseases, there is a common theme in epidemiologic research on rare diseases: small numbers issues are compounded by a lack of suitable, contemporaneous comparators necessitating creative approaches to traditional epidemiologic questions.
OBJECTIVES: The objective of this symposium is to discuss a range of regulatory, methodological, and strategic topics, as they apply to epidemiologic research on rare diseases. These topic areas represent unique challenges and opportunities for any rare disease development program.
