On March 5, 2020, in recognition of Rare Disease Day, the United States Food and Drug Administration (FDA) held a conference focused on addressing the needs of patients with rare diseases and highlighting strategies to support rare disease product development. Staff from the Office of Orphan Product Development and outside experts attended the morning’s presentations, while higher-ranking members of the agency were present in the afternoon for a discussion addressing rare disease product development in the individual medical product centers.
Frank McCormack, MD, professor of medicine at the University of Cincinnati, attended the conference and highlighted the success of efforts to find a therapy for lymphangioleiomyomatosis (LAM), a rare lung disease. McCormack reviewed the collaborative efforts that led the FDA to approve a new indication for sirolimus to treat LAM in 2015 and gave much of the credit to the patients, referring to their “courage and resolve” as well as private foundations, such as the LAM Foundation, which funded pre-clinical research, organized patients, and encouraged patients to participate in clinical trials. However, he also acknowledged the contributions of the FDA, noting that “we had a lot of help from the FDA.”
Officials from the FDA and subsidiary departments highlighted the importance of collaboration and working together. Sally Seymour, MD, director of the division of pulmonology, allergy, and critical care at the FDA’s Center for Drug Evaluation and Research (CDER), said that bringing different stakeholders together “to combine their efforts would be more efficient and we may suggest that some of these stakeholders actually work together.”
Vasum Peiris, MD, chief medical officer and director of pediatrics and special populations at the FDA’s Center for Devices and Radiological Health (CDRH), echoed Dr. Seymour’s sentiments, noting that, “There’s obviously a huge need for us to actually work together and leverage the comparative advantages of so many stakeholders in the ecosystem to be able to address these long-standing public health needs in rare diseases and in pediatrics.”
A recording of the entire day can be found here.
RFA for Natural History Studies
Prior to the conference, on February 17, 2021, the FDA and the Orphan Products Grants Program issued a request for applications (RFA) seeking natural history studies that address unmet needs of patients with rare diseases, including innovative and efficient approaches. Overall, the Orphan Products Grants Program has contributed to more than 70 product approvals since it began supporting rare disease clinical trial research in 1983, including several new approvals in 2020.
In an article written by acting FDA Commissioner Janet Woodcock, MD, and Janet Maynard, MD, director of the FDA Office of Orphan Products Development, they noted that “[b]oth natural history studies and clinical trials for rare diseases are supported through the Orphan Products Grants Program with a goal to increase the number of treatments for rare diseases with an unmet medical need and exert a broad and positive impact on rare disease drug development.”
CBER Collaboration
The FDA has also announced that the Center for Biologics Evaluation and Research (CBER) is working with two other federal agencies (the Foundation for the National Institutes of Health and the National Center for Advancing Translational Sciences) to develop a “Bespoke Gene Therapy Consortium.” The Consortium hopes “to provide a standardized and efficient approach for development and delivery of bespoke [adeno-associated virus]-based gene therapies.”