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Rare Diseases and Orphan Products: Accelerating Research and Development
ing more resources to promote the translation of basic science discoveries into clinically significant products and is investing in sophisticated informatics and other tools to support the sharing of data, biological specimens, and other research resources.
In addition to the dramatically changing landscape of science and technology, other political and social developments have also altered the environment of rare diseases research and product development. As described further below, the Orphan Drug Act, enacted in 1983, provides incentives for companies to develop products for rare diseases. Since 1983, the Food and Drug Administration (FDA) has approved more than 350 orphan drug applications. Drugs for rare conditions accounted for more than 30 percent of the innovative drugs approved by FDA from 2004 to 2008 (Coté, 2009). NIH has created the Rare Diseases Clinical Research Network and other targeted programs of research for a number of rare diseases. Several small companies now focus on the development of drugs to treat rare diseases, and some large pharmaceutical companies are expressing increased interest in the incentives of the Orphan Drug Act. Moreover, patient advocacy groups have become increasingly active and have helped create innovative models for funding and organizing rare diseases research and product development, including various kinds of public-private partnerships as discussed in Chapter 5.
Certainly, daunting obstacles remain to continued advances in rare diseases research and product development. These obstacles range from attracting funding from public agencies for basic and translational research to securing commercial investments to develop products for very small markets. Even with funding, researchers often struggle to obtain enough biological specimens for critical preclinical studies or to identify and recruit enough research participants for clinical trials of a product’s safety and efficacy. Difficulties and costs mount to the extent that a product under study has a subtle effect or one that emerges slowly. Identifying and winning acceptance of biological markers and surrogate measures of disease and treatment effects is challenging for researchers investigating common conditions and even more so when the condition is rare. Attracting trained investigators to the study of a rare disease is another challenge.
Despite the obstacles, with support from NIH, FDA, and a variety of philanthropic and industry sources, researchers are studying hundreds if not thousands of rare diseases, including some that are extremely rare. Box 1-3 highlights one example of research progress involving Hutchinson-Gilford progeria syndrome, an extremely rare condition that physicians have diagnosed in only a few dozen children worldwide. These and other examples of scientific progress with rare diseases offer encouragement and motivation for continuing efforts to bring the advances in science and technology more fully to bear on rare diseases and thereby accelerate the creation of