Amy Abernethy, M.D.
Principal Deputy Commissioner; Food and Drug Administration
There are over 7,000 rare diseases affecting an estimated 30 million people in the United States. Thus, while rare diseases are individually rare, collectively they are not. Many of these diseases are serious and life threatening, and approximately half affect children. While there has been progress in the development of treatments for rare diseases, more work remains to be done as the majority of these diseases do not have treatments.
The impact of a pandemic
Patients with rare diseases may be especially vulnerable during the COVID-19 pandemic. The FDA is working diligently to address the potential effects of COVID-19 on development of treatments. These efforts include ongoing support of existing programs and additional efforts that address medical needs during the pandemic.
As the FDA focuses on the COVID-19 pandemic, the agency also remains attentive to its crucial role in advancing scientific breakthroughs in areas such as genetics, immunology, and technology, that inspire new hope and novel approaches for rare disease therapies. The FDA’s efforts related to orphan product designation and clinical studies of medical products for rare diseases are integral to transitioning such scientific advances into safe and effective new therapies to address the unmet needs for such treatments.
Stakeholder engagement is another key aspect of optimal rare disease product development. The FDA is engaging with stakeholders in webinars and virtual conferences to ensure questions are answered and patient voices are heard.
Supporting research
The FDA supports rare disease clinical studies in many ways, such as by working with sponsors and researchers during the design and conduct of clinical studies of medical products, as well as issuing guidance on rare diseases to facilitate product development. In addition, the FDA funds research in rare diseases through congressionally mandated programs like the Orphan Products Grants Program that supports natural history studies and clinical trials for rare diseases. To date, the program has facilitated the marketing approval of 74 rare disease products.
To speed the development of safe and effective medical products for rare diseases, it is crucial that we learn to apply innovative approaches to clinical trials and data collection. The FDA has an important role in the modernization of clinical evidence generation by advancing rigorous analytical methods to gain insights from novel data sources, such as real-world data.
For this reason, the program’s impact is focused on innovative strategies as outlined in the new request for applications (RFA) for rare disease clinical trials to fund efficient and innovative studies evaluating safety and efficacy. In addition, this new RFA introduces a request for an optional innovative demonstration project proposal that may be used as a model for future drug development in rare diseases in one of the following areas: 1) innovative collaborations; 2) innovative patient recruitment/retention strategies; or 3) innovative methods using data simulation or modeling.
Additionally, the FDA supports a research and development effort related to medical devices, the Pediatric Device Consortia (PDC). Based on its success, the PDC received additional funding to support innovative device solutions to address critical emerging public health needs for pediatric patients.
The agency also is continuing critical work focused on building the Rare Disease Cures Accelerator, a cooperative scientific initiative for the development of common, standardized platforms that can improve the characterization of rare diseases, incorporate the patient’s perspective through the development of standard core sets of clinical outcome assessments and related endpoints, and build clinical trial readiness in the pre-market space. As part of these efforts, the FDA recently offered the opportunity for stakeholder input on practical steps and successful approaches relating to global trials clinical networks through an announced Request for Information, and the agency is now analyzing the input provided by the public.
Importance guidance
The COVID-19 pandemic has only added to the urgency of addressing the challenges in rare disease product development and the FDA has issued guidance to help sponsors, investigators, and others conducting clinical trials of medical products. The FDA continues to work closely with grantees and sponsors developing medical products for rare diseases as they assess and mitigate the impacts of COVID-19 on ongoing rare disease clinical studies. The Orphan Products Grants Program established a Grantees Unite Interactive Webinar series where grantees come together to discuss challenges and potential solutions to supporting rare disease product development. Current topics have focused on COVID-19 and its effect on rare disease research and how these researchers are overcoming these obstacles to continue studies during the pandemic.
The FDA’s commitment to supporting rare disease product development includes collaboration with our partners in our successfully established and new programs. For example, as part of its efforts for stakeholder engagement to include patients and families, on September 16, 2020, the FDA will join the National Organization of Rare Disorders (NORD) for a listening session regarding the impact of the pandemic on patients and families with rare diseases.
Working together with the rare disease community, the FDA can help address unmet needs for patients and families living with rare diseases.
