FDA Meeting: Patient Perspectives on the Impact of Rare Diseases — Bridging the Commonalities

Monday, April 29, 2019 -
1:00pm to 5:00pm

The Food and Drug Administration (FDA) is announcing an upcoming public meeting titled  “Patient Perspectives on the Impact of Rare Diseases: Bridging the Commonalities.”

This public meeting is intended to obtain patients' and caregivers' perspectives on impacts of rare diseases on daily life and to assess commonalities that may help the Agency and medical product developers further understand and advance the development of treatments for rare diseases. Developing a treatment for a rare disease can present unique challenges, such as the small number of individuals affected and heterogenous etiologies and manifestations. While the differences between rare diseases are critically important, it is also important to assess commonalities to synergize product development in rare diseases. The goal of this meeting is to identify common issues and symptoms in rare diseases to help advance medical product development, potentially through the creation of novel endpoints or trial designs that focus on commonalities across a variety of rare diseases.

The development of drugs, biologics, and devices for rare diseases involves unique challenges. The goal of this meeting is to identify common issues across rare diseases to help address some of these challenges. Rare diseases, often referred to as orphan diseases, are defined based on rarity of occurrence. Although these diseases are individually rare, collectively they are not. According to the National Institutes of Health, there are approximately 7,000 rare diseases affecting an estimated 30 million people in the United States. Many of these rare diseases are serious or life-threatening and many affect children.

The combination of government incentives and scientific advances has fueled extraordinary development in orphan drugs. Since the Orphan Drug Act was passed in 1983, drugs and biologics for over 750 rare disease indications have been developed and approved for marketing. In addition to drugs and biologics, there has been progress in the development of devices for rare diseases. Since 1990, the FDA has approved 74 medical devices for orphan indications under the Agency's Humanitarian Device Exemption program. Despite these successes, we recognize that thousands of rare diseases still have no approved treatments.

Developing a treatment for a rare disease can present unique challenges. Potential challenges include the small number of individuals affected, lack of understanding of the natural history of the disease, phenotypic heterogeneity, and lack of validated endpoints for use in clinical trials. Overcoming these challenges requires collaboration between many stakeholders, including scientists, product developers, regulators, policy makers, and patients. FDA is committed to working with stakeholders to advance treatment options for patients with rare diseases.

This public meeting will focus on the perspective of those affected by rare diseases. Patients, family members, and caregivers will provide important input on the impact of rare diseases on daily life. While the differences between rare diseases are critically important, this meeting will assess commonalities. The specific goal of this meeting is to identify common issues and symptoms in rare diseases to help advance medical product development, potentially through the generation of novel endpoints or trial designs that focus on commonalities across a variety of rare disease.

This public meeting will consist of panels of patients/caregivers and facilitated discussions. The aim of the meeting is to hear directly from patients with rare diseases and their caregivers and family members. The meeting will include patients with any rare disease and their caregivers and family members. It is not restricted to a specific rare disease or group of rare diseases.

Members of the public may attend in person. Registration for the meeting will be done online, with option to register for the comment period on the day of the meeting. For more information regarding the registration process, along with a link to a forthcoming agenda, please see this Federal Register notice.