IOM: Rare Diseases and Orphan Products: Accelerating Research and Development 2010

by the Institute of Medicine, Oct 2010

Rare diseases collectively affect millions of Americans of all ages. They often are serious and life-altering; many are life-threatening or fatal. But because each rare disease affects a relatively small population, it can be challenging to develop drugs and medical devices to prevent, diagnose, and treat these conditions. We still lack even a basic understanding of the cause or underlying molecular mechanisms of many rare diseases. To help in accelerating rare diseases research and product development, the National Institutes of Health (NIH), with support from the Food and Drug Administration (FDA), asked the IOM to examine the opportunities for and obstacles in developing drugs and medical devices for treating rare diseases.

To guide policymakers, the IOM sets forth the elements of an integrated national strategy to promote rare diseases research and product development. Among other recommendations, the IOM calls for NIH to work with industry, academia, and voluntary organizations to develop a comprehensive system of shared resources for discovery research on rare diseases and to facilitate communication and cooperation for such research. In addition, the IOM calls for the Secretary of the Department of Health and Human Services to establish a national task force on accelerating rare diseases research and product development. Overall, the effort and investment needed to move further toward a collaborative, coordinated, open, and sustained approach to rare diseases will be substantial, but not making the investment will also be costly. The potential benefits justify a renewed commitment to accelerating rare diseases research and product development.