Advancing the Development of Therapeutics Through Rare Disease Patient Community Engagement

Although the Orphan Drug Act defines a rare disease as a disease or condition that affects less than 200,000 people in the United States, collectively these conditions impact an estimated 30 million people in the United States. Advancing the development of treatments for these individuals is critical, as many rare diseases are progressive, considered serious or life-threatening, and nearly half affect children. Significant unmet treatment needs remain for many of those living with one of the 7,000-10,000 known rare diseases, as only a small percentage of rare diseases have an approved treatment. Traditional clinical trials are challenging to conduct for therapies targeting these small populations due to a limited understanding of disease natural history, difficulty powering traditional clinical trials given small population size and disease heterogeneity, and challenges with identifying and recruiting participants. Together, these factors significantly impact the rare disease drug development space. Given these challenges, understanding the experiences and priorities of patients and working closely with rare disease or condition experts, and experts on small population studies can be important for informing and supporting the drug development process for products intended for patients with rare diseases.

In order to facilitate rare disease drug development, and as part of a requirement in the Food and Drug Omnibus Reform Act of 2022 (FDORA), this meeting will be convened by the Duke-Robert J. Margolis, MD Center for Health Policy (Duke-Margolis) in collaboration with the FDA, and supported by a cooperative agreement between FDA and Duke-Margolis. This public meeting will discuss approaches and opportunities for engaging patients, patient groups, rare disease or condition experts, and experts on small population studies during the drug development process for rare diseases. The meeting will focus on how to best understand patients' experiences living with a rare disease and how to incorporate those experiences and priorities throughout the drug development process. This includes understanding patient perspectives on the burden of their condition and any existing treatment options, as well as how their current health status and risk of disease progression may impact willingness to accept risks from treatment side effects.

All are welcome to attend.