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Rare Diseases and Orphan Products: Accelerating Research and Development
priority is to expand resources and options at the preclinical stage of drug development.
RECOMMENDATION 5-1: NIH should create a centralized preclinical development service that is dedicated to rare diseases and availableto all nonprofit entities.
An important strategy to reduce the time and costs for clinical studies of drugs for rare diseases involves the development and validation of biomarkers for use as surrogate endpoints in such studies. Validation is critical for FDA’s acceptance of the use of such endpoints in studies submitted to support approval of an orphan drug.
RECOMMENDATION 5-2: In collaboration with industry, academicresearchers, NIH and FDA scientists, and patient organizations, FDAshould expand its Critical Path Initiative to define criteria for theevaluation of surrogate endpoints for use in trials of products for rareconditions.
The expansion and improvement of patient registries and biorepositories is another important element in a strategy to accelerate rare diseases research and product development. Today, an uncounted number of organizations and researchers in this country and around the world maintain rare diseases registries in some form, sometimes for the same condition. No uniform, accepted standards govern the collection, organization, or availability of these data. The result is sometimes wasteful duplication and sometimes underuse of information or samples contributed by patients or research participants. Although it would undoubtedly be a complicated undertaking, moving toward common standards, including protections for patients and research participants, and data sharing arrangements should help resolve many of these problems.
RECOMMENDATION 5-3: The NIH should support a collaborativepublic-private partnership to develop and manage a freely available platform for creating or restructuring patient registries and biorepositoriesfor rare diseases and for sharing de-identified data. The platform shouldinclude mechanisms to create standards for data collection, specimenstorage, and informed consent by patients or research participants.
The committee recognizes the value of the Rare Diseases Clinical Research Network but notes its relatively limited scope and thus its limited opportunities to take advantage of unanticipated scientific discoveries. In some cases, other NIH research networks may respond with more flexibil-