Natural History Studies and Registries in the Development of Rare Disease Treatments

Natural History Studies and Registries in the Development of Rare Disease Treatments

Hybrid Public Workshop: In-Person and Virtual
May 13, 2024 | 10am-4pm (eastern)

The Reagan-Udall Foundation for the FDA, in collaboration with FDA’s Rare Diseases Team within the Office of Rare Diseases, Pediatrics, Urologic and Reproductive Medicine; Office of New Drugs; Center for Drug Evaluation and Research and the National Institutes of Health’s Division of Rare Diseases Research Innovation within the National Center for Advancing Translational Sciences, hosted a public workshop. The workshop brought together rare disease patient advocates, academic researchers, regulated industry, and other key stakeholders to discuss considerations for the use of natural history study and registry data in rare disease drug development programs.

Rare diseases impact more than 400 million people worldwide, including 25-30 million people in the United States. Yet, the vast majority of rare diseases have no FDA-approved treatment. All drug product development programs benefit from a firm scientific foundation, including an understanding of disease natural history; however, the natural history of rare diseases is often poorly understood. Natural history studies allow researchers to track the progression of illness in patients over time, and information from these studies can play an important role throughout drug product development, from discovery to clinical trial design to the post-marketing period. A registry can be defined as an organized system that collects clinical and other data in a standardized format for a population defined by a particular disease, condition, or drug exposure. When considering whether to use an existing registry—or develop a new registry— for regulatory purposes, the data collected should be assessed for its ability to address scientific objectives. Both registries and natural history studies can play an important role in informing the careful planning of clinical studies for use in rare disease drug development.

Workshop Goals:

This workshop addressed the role and design of registries and natural history studies to inform the development of rare disease treatments, including aspects of clinical trial design. It also presented considerations for:

• collecting registry and natural history data that are fit for regulatory purposes
   
• the use of registries and natural history studies to inform regulatory decision-making