Preface

The challenges for people living with rare diseases and conditions are numerous and often daunting. The Orphan Drug Act, passed some 40 years ago, was an attempt to remove policy roadblocks and create market incentives to increase research and development and bring new therapies for rare diseases to market. The impact was real, with nearly 900 new drugs for rare diseases since the Act was passed, but it was insufficient as that number barely scratches the surface in terms of the need. Of the rare diseases so far identified, fewer than 5 percent have available therapies.

This committee was tasked with examining regulatory processes in both the United States and the European Union for evaluating the safety and efficacy of drugs for rare diseases, and with identifying flexibilities and mechanisms available to regulators, all in service of increasing the number of available therapies.

Our conclusions and recommendations were informed by data available to us from both FDA and EMA, from information about policies and practices shared by colleagues from both agencies, by oral and written feedback from rare disease advocates, and by the experiences and expertise of our diverse committee members. This report represents the work of true consensus—a committee that was focused on its charge, careful in its analyses, informed by each other’s expertise, and committed to going wherever the facts would take us, free of personal or self-interested agenda. The result is a clear-eyed assessment of the status quo, conclusions that point to needed change, and actionable recommendations for doing so.

We were aided by an incredibly committed, hardworking, and expert National Academies staff: Carolyn Shore, Eeshan Khandekar, Carson Smith, Tequam Worku, Melvin Joppy, Noah Ontjes, Kyle Cavagnini, and Clare Stroud. This report truly would not have been possible without them. Lastly, my personal thanks to my committee colleagues, for their careful attention and parsing of often complex data, for their patience and willingness to learn from each other, and mostly for their incredible commitment to improving the lives of those with rare diseases. It was truly a privilege to work with you all.

Jeffrey P. Kahn, Chair

Committee on Processes to Evaluate the Safety and Efficacy of Drugs for Rare Diseases or Conditions in the United States and the European Union