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Rare Diseases and Orphan Products: Accelerating Research and Development
genetic causes of rare diseases easier, faster, and less expensive. Some of the same research approaches and technologies are also altering the processes and efficiency of therapeutic discovery and product development for rare conditions.
Political and social developments also have altered the environment of rare diseases research and product development. Nearly 30 years ago, Congress passed the Orphan Drug Act, which provided incentives for companies to develop drugs for rare diseases. The law defines a rare disease or condition as one affecting fewer than 200,000 people in the United States. Since 1983, the Food and Drug Administration (FDA) has approved orphan drugs for approximately 355 uses or indications, and orphan drugs account for a significant proportion of the innovative drugs recently approved by the agency. Devising effective incentives for medical device developers has been particularly difficult, but more than four dozen devices have been approved under policies to encourage the development of devices for small populations.
At the National Institutes of Health (NIH), the Office of Rare Diseases Research (ORDR) undertakes a range of activities to encourage and support research on rare conditions. The Rare Diseases Clinical Research Network funds consortia to study groups of related rare conditions. The new Therapeutics for Rare and Neglected Diseases program aims to bring promising compounds to the point of clinical testing and adoption for further development by commercial interests. In the private sector, several small pharmaceutical companies now focus on drugs for rare diseases, and some large companies are expressing increased interest in the incentives for orphan drug development.
In addition, the substantial physical, emotional, and financial impact of rare diseases on individuals and families has motivated many to join together to try to have an impact on these diseases through research that unravels their causes and yields effective therapies. An increasing number of advocacy groups not only promote and fund research but also initiate and organize research in partnership with academic researchers, industry, and government.
Notwithstanding the successes, many rare conditions still lack even a basic understanding of their cause or the mechanisms that underlie them. Effective products are now available for only a small fraction of rare diseases.
In response to the difficulties confronting rare diseases research and orphan product development, NIH with support from FDA approached the Institute of Medicine (IOM) about a study to examine the opportunities for and obstacles to the development of drugs and medical devices to treat rare diseases. They requested a report that would assess strategies and propose an integrated national policy to accelerate rare diseases research and