The FDA Office of Orphan Products Development (OOPD) was created to identify and promote the development of orphan products. Orphan products are drugs, biologics, medical devices, and medical foods that are indicated for a rare disease or condition. Rare diseases, as generally defined in the US Orphan Drug Act (ODA), are diseases or conditions with a prevalence of fewer than 200,000 persons in the US. Approximately 30 million Americans are affected by 7,000 known rare diseases but only a few hundred of these rare diseases have approved treatments. Unlike common diseases, there is little existing knowledge on the presentation, major limitations on day-to-day function, core unmet needs, and course of most rare diseases which makes drug development challenging. To address this, it is critical to study the natural history of rare diseases.
Definition of Natural History Studies:
The natural history of a disease is traditionally defined as the natural course of a disease from the time immediately prior to its inception, progressing through its pre-symptomatic phase and different clinical stages to the point where the disease has ended without external intervention. A natural history study describes the course of a disease over time, identifying demographic, genetic, environmental, and other variables that correlate with its development and outcomes. These studies are likely to include patients receiving the current standard of care (e.g., supportive care, unapproved treatment options), which may alter some otherwise natural manifestations or course of the disease. Natural history studies can be prospective or retrospective.
History of OOPD Funding Natural History Studies:
OOPD launched the Natural History grants in 2016 with the goal to support targeted studies that advance rare disease medical product development through characterization of the natural history of rare diseases/conditions, identification of genotypic and phenotypic subpopulations, and development and/or validation of clinical outcome measures, biomarkers and/or companion diagnostics. In FY2017, FDA provided approximately $2 million along with funds received National Institutes of Health’s (NIH) National Center for Advancing Translational Sciences (NCATS) to fund six Natural History Studies that met this goal. We are hopeful that these important studies will provide key information about how these rare diseases progress over time and can ultimately assist making the development process more efficient.