RECOMMENDATION 4-1: NIH should initiate a collaborative effort involving government, 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.
This research resource would include, among other features, a repository of publicly available animal models for rare disorders and a publicly accessible database that includes mechanistic biological data on rare diseases generated by investigators funded by NIH, private foundations, and industry. It would develop model arrangements and agreements (e.g., template language on intellectual property) for making relevant portions of compound libraries available to researchers investigating rare disease.
Given the important role that NIH plays in supporting rare diseases research, a comprehensive NIH action plan on rare diseases would be useful to better integrate and expand existing work and attract new resources and investigators to the field. The following recommendation spans all phases of research on rare diseases and orphan products, including research on medical devices for people with rare diseases.
RECOMMENDATION 4-2: NIH should develop a comprehensive action plan for rare diseases research that covers all institutes and centers and that also defines and integrates goals and strategies across units. This plan should cover research program planning, grant review, training, and coordination of all phases of research on rare diseases.
Once a potential therapeutic drug or biologic has been discovered, the process of developing the therapeutic for a particular disease, whether rare or not, begins with preclinical development and continues through increasingly complex and demanding phases of clinical testing. Much of this work has traditionally been done within companies and is expensive and risky, so companies usually choose to develop therapies with the greatest promise to generate a good financial return. As a result, potential therapies for rare diseases have often languished, even with the incentives of the Orphan Drug Act.
For product development as for basic research, a stronger infrastructure is again critically important. A major need is for innovative collaborative strategies to share and leverage resources to decrease research and development costs without sacrificing product safety or efficacy. To this end, one