FDA Provides Guidance on Natural History Studies for Rare Disease Treatment

March 25, 2019

The guidance provides industry with information on the design and implementation of natural history studies to support the development of treatments for rare diseases.

FDA published guidance on March 25, 2019 detailing the agency’s thoughts on the design and implementation of natural history studies for the development of drugs and biologics for the treatment of rare diseases. The guidance specifically discusses the types of natural history studies, data elements and research plans, and a practical framework for the conduct of a natural history study. Considerations for aligning the study design with study objectives and for enhancing the interpretability of study results are also discussed, as well as patient confidentiality and data protection.

The agency defines a natural history of a disease as the “course a disease takes in the absence of intervention in individuals with the disease, from the disease’s onset until either the disease’s resolution or the individual’s death.”  A natural history study is a preplanned observational study that tracks the course of the disease to identify demographic, genetic, environmental, and other variables of the disease that may be used in the development of treatments. Data for these studies may come from diseases registries. 

FDA states in the document that while this guidance is focused on rare diseases, the recommendations may also apply to development of other drug products.

Source: FDA