ies are designed to be consistent with the requirements for FDA approval. Provision of communications and assistance to sponsors should reduce the likelihood that the investments of sponsors, funders, and research participants will be used unproductively or even wasted.

RECOMMENDATION 3-3: To ensure that NIH-funded product development studies involving rare diseases are designed to fulfill requirements for FDA approval, NIH and FDA should develop a procedure for NIH grantees undertaking such studies to receive assistance from appropriate CDER drug review divisions that is similar to the assistance provided to investigators who receive orphan products grants. NIH study section review of rare diseases clinical trial applications should involve reviewers who are knowledgeable about clinical trial methods for small populations. For all sponsors of drugs for rare diseases, CDER should have resources to support sufficient and adequate meetings and discussions with sponsors from the earliest stages of the development process.

The committee concluded that funding for the orphan products grants program has lagged far behind inflation and seriously undermined an important resource. An increase would allow more qualified researchers to benefit from this focused product development program.


Basic and then therapeutic discovery research is the foundation for the development of new preventive, diagnostic, and therapeutic products for patients with rare diseases. It identifies the causes and delineates the molecular mechanisms of these diseases as a basis for discovering therapeutic targets. The basic research tools available to biomedical investigators have changed dramatically over the past 20 years, with technological advances generating new knowledge at an unprecedented pace and, often, at lower cost for a given task. Some tools hold particular promise for rare diseases research. Also promising is the growth of innovative public-private partnerships and other collaborations to bridge the gulf between basic research findings and beneficial products.

Making the best use possible of research resources calls for arrangements that make existing knowledge and resources more accessible to rare diseases researchers and that also discourage a duplicative infrastructure of, for example, natural history data, animal models of disease, biorepositories, and chemical compound libraries. Although many barriers will have to be overcome, a “rare diseases research commons” with several unlinked or loosely linked elements should yield significant benefits.

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