The programs of the Office of Orphan Products Development (OOPD) promote and advance the development of innovative human medical products ‒ drugs, biologics, medical devices, and medical foods ‒ that demonstrate promise for the prevention, diagnosis, and/or treatment of rare diseases or conditions. A rare disease is defined as any disease or condition which affects less than 200,000 persons in the US or meets the cost recovery provisions of the act. There are an estimated 7,000 rare diseases, with a public health impact that affects more than 25 million Americans and many millions more of family members in the United States. Between 85 and 90 percent of these cases are serious or life-threatening. Since the inception of the Orphan Drug Act in 1983, there have been tremendous advances in the scientific development of promising medical products. OOPD works on rare disease issues with medical and research communities, professional organizations, academia, government agencies, industry, and rare disease patient organizations and advocacy groups.

OOPD administers two grant programs that provide funding to stimulate the development of promising products for rare diseases and conditions. The Orphan Products Clinical Trials Grants Program provides funding for clinical trials that advance rare disease medical product development and evaluate safety and/or efficacy of medical products in support of a new indication or a change in labeling. The Orphan Products Natural History Grants Program provides funding for natural history studies that address knowledge gaps, remove major barriers to progress in the field, and facilitate rare disease product development.

Additionally, OOPD manages the orphan drug designation program to provide financial incentives to sponsors for developing medical products for rare diseases and conditions. OOPD evaluates requests from sponsors to determine if drugs, biologics, or medical devices meet the criteria for certain incentives (e.g., orphan drug, rare pediatric disease drug and humanitarian use device designations).

To facilitate efficient and successful rare disease drug development, the Center for Drug Evaluation and Research (CDER) is committed to addressing scientific and regulatory issues associated with therapeutic development in rare diseases such as the small trial populations and limited understanding of disease natural history. CDER engages in regulatory science research to address challenges in rare disease drug development to investigate flexible and feasible approaches to studying and reviewing such drugs to include: innovative use of biomarkers, consideration of non-traditional clinical development programs, use of adaptive study designs, evaluation of novel endpoints, application of new approaches to statistical analysis, and appropriate use of FDA’s expedited development and review programs. CDER additionally uses mechanisms such as Broad Agency Announcements, collaborative research agreements, and memorandums of understanding to promote these efforts. The Rare Diseases Team in the Office of New Drugs, CDER is involved in many regulatory research efforts and provides training to Agency review staff related to development, review, and approval of drugs for rare diseases as part of the reviewer training core curriculum. The objective of the training is to familiarize review staff with the challenges associated with rare disease applications and strategies to address these challenges, to promote best practices for review and regulation of rare disease applications, and to encourage flexibility and scientific judgment to advance the development of rare disease therapies.