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FDA Helps to Deliver Meaningful Advances for Rare Disease Patients

FDA’s Rare Disease Day Meeting on March 1 Dedicated to Patients and Health Care Professionals

Monochromatic blue themed image that depicts a doctor's hand touching a patients shoulders, test tubes and a group of hands piled up on one another.

By: Robert M. Califf, M.D., Commissioner of Food and Drugs and Sandy Retzky, D.O., J.D., M.P.H., Director, Office of Orphan Products Development 

Advancing the understanding of rare diseases and innovative tools to support product development is part of the U.S. Food and Drug Administration’s commitment to promoting safe, effective treatment options for patients. We strive to help include patient experience into development programs for all medical products, and we consider the patient experience, as appropriate, when we review the safety and efficacy of these products.

Robert M. Califf, M.D.
Robert M. Califf, M.D.

The FDA’s Rare Disease Day, a virtual public meeting on March 1, is dedicated to patients, those who care for them and health care professionals. This year, our goal is to empower patients and health care professionals with knowledge about clinical trials for rare disease product development and stimulate more awareness and interest in decentralized clinical trials (DCTs), which allow some or all trial-related activities to take place at trial participants’ homes or other convenient locations, instead of requiring them to visit research sites. Additionally, we will explore ways to engage and collaborate with patients and patient advocates to support medical product development for rare diseases. 

During the meeting, panelists will discuss the legal framework for approving the design and conduct of studies and evaluating medical products, what the FDA does during review, DCTs, FDA initiatives to advance product development for rare diseases, and ways for patients to further engage with the FDA. Given the complexity of most diseases and the frequency with which proposed new therapies have unexpected toxicities or fail to improve outcomes, it’s vital that we work together to design the best trials, conduct them with necessary attention to quality, and take into account the express needs of patients and those who care for them.

Empowering Patients and Health Care Professionals with Knowledge about Clinical Research

The nature of rare diseases, along with the small patient populations, means a limited number of people are available to participate in clinical trials, so there is a particular need to make good use of existing sources of data and information as new therapies are developed. Enhancing the understanding of the natural history is particularly useful in rare disease, since this information is crucial to developing medical products that will improve outcomes that matter for patients.

Sandra Retzky, D.O., J.D., MPH
Sandra Retzky, D.O., J.D., MPH

Depending on the circumstances, this information can be used to construct a comparison of expected outcomes in trials limited to a single treatment arm or very small sample size, and in other cases, the design of robust trials will be improved by an understanding of what to expect without the new intervention. 

DCTs play an important role in evidence generation to advance safe and effective treatments that will help improve the lives of patients with rare diseases. By reducing barriers to participation, we expect DCTs will increase the breadth and diversity of participants in clinical trials and improve accessibility, such as through the use of telemedicine, digital health technologies, and local clinicians and facilities. These tools may make participation less burdensome for patients for whom travel is difficult, and importantly, for those who care for them. Experience has taught us that we cannot take these advantages for granted—purposeful attention to user-friendly design is essential.

A Collaborative Effort Throughout the Medical Product Lifecycle

We remain committed to supporting rare disease research, engaging patients and caregivers to understand their unique perspectives, and enhancing our review processes to advance medical products for rare disease patients. Communicating and collaborating throughout the product lifecycle—particularly earlier and more frequently in the pre-market stages—is an area of focus for the agency. For example, in 2023 we launched the Support for clinical Trials Advancing Rare disease Therapeutics (START) pilot program which enables a limited number of sponsors to communicate more frequently with FDA staff and provides a mechanism for addressing clinical development issues. 

We at the FDA regard talking with patients, industry, health care professionals and the clinical research community essential to help address the challenges associated with rare disease research. When applicable, we aim to incorporate the patient voice in medical product development and regulation. In this time of tremendous excitement about the rapid progression of applicable science, this year’s Rare Disease Day will be a unique opportunity to hear a range of rare disease experiences and determine how we can collaborate with patients and patient advocates to tackle the important medical and scientific challenges ahead. Register today to join the conversation and be part of the efforts to advance medical product development for rare diseases.


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