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.

Attendees are encouraged to submit questions via the form below. Moderated discussions will incorporate attendee questions submitted in advance via this link, and live via the webinar’s Q&A function. Comments related to this workshop may be submitted to Docket FDA-2023-N-4718. The Docket will be open until February 12, 2024. Comments in the Docket will be reviewed after the Docket closes.  

This meeting was supported by the Food and Drug Administration (FDA) of the U.S. Department of Health and Human Services (HHS) as part of a financial assistance award [U19FD006602] totaling $5,045,773 with 100 percent funded by FDA/HHS. The contents are those of the author(s) and do not necessarily represent the official views of, nor an endorsement, by FDA/HHS, or the U.S. Government.