and more efficient use of resources, a process that would build on existing initiatives as well as the recommendations discussed in this report. Although many elements of a national rare diseases research policy already exist, they are not integrated or overseen in a way that supports the systematic identification of key research and development gaps or the setting of priorities, even within government.


Given the broad scope of this report, the analyses and recommendations focus selectively on the range of issues and activities related to rare diseases research and product development. They emphasize actions to be initiated by the National Institutes of Health (NIH) or the Food and Drug Administration (FDA) but also call for participation by advocacy groups, industry, research institutions, and others.

Active Involvement and Collaboration by a Wide Range of Public and Private Interests

A number of recommendations in this report relate to this element of a national policy, including those that explicitly call for cooperative efforts to improve the design and analysis of trials for small populations (Recommendation 3-2); collaborative sharing of resources to facilitate the application of scientific advances in basic and translational research (Recommendation 4-1); an expansion of the FDA’s Critical Path Initiative to work on surrogate endpoints for clinical trials in rare diseases (Recommendation 5-2); creation of a public-private partnership on patient registries and biorepositories for rare diseases (Recommendation 5-3); coordination of the Cures Acceleration Network with various rare diseases research initiatives and with advocacy groups (Recommendation 5-5); and the assessment of unmet needs for medical devices for rare diseases and conditions (Recommendation 7-1). In addition, other activities will necessarily involve cooperation, for example, the creation of an action plan for rare diseases research and product development at NIH (Recommendation 4-2) and the expansion of a centralized preclinical development service at NIH that is available to nonprofit organizations (Recommendation 5-2).

At the end of this chapter is another recommendation for a high-level collaboration to promote and monitor the implementation of existing and new initiatives to accelerate rare diseases research and orphan product development (Recommendation 8-1). Although this report does not direct any recommendations narrowly at advocacy groups and companies, it has described increasing interest and involvement from the private sector in public-private and other collaborations. In addition, the report has not

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