Although devastating to the families involved, Huntington disease is "rare," affecting 4−10 people per 100,000. Lou Gehrig's disease (amyotrophic lateral sclerosis) and Tourette syndrome are other examples of rare diseases, research into which is challenging because of difficulty in gaining access to patients, and because there is little economic incentive for the pharmaceutical industry to develop drugs for small populations. But thanks to two new companion bills passed by the US House of Congress last month, funding for the development of drugs and treatments for rare, or "orphan," diseases is set to rise.
If ratified by the Senate, the "Rare Diseases Act of 2002" would establish a permanent Office for Rare Diseases at the National Institutes of Health (NIH). The office was created administratively in 1993, but not authorized by law, and has functioned primarily as a clearinghouse of information about rare diseases and disorders.
The new legislation would provide the Office with $24 million annually for the next four years, enabling it to make grants to establish regional Centers of Excellence. Diane Dorman, spokesperson for the National Organization of Rare Disorders, a major lobby group for patients with rare diseases, says "These [rare disease] populations are so small it is hard to develop relationships with clinical researchers. The centers will increase awareness about rare diseases in the medical community." Although individual rare diseases each affect fewer than 200,000 people in the United States, taken together the 6,000 recognized rare diseases afflict around 25 million Americans.
The companion "Rare Diseases Orphan Product Development Act of 2002" would authorize a separate sum of $25 million annually for an existing program at the Food and Drug Administration (FDA) that provides grants for small clinical trials and other research involved in developing drugs and treatments for rare diseases. This would double the current funding for the program.
This is not the first time that US Congress has shown an interest in rare diseases. The Orphan Drug Act of 1983 created financial incentives for research and production of orphan drugs. Before 1983, 38 orphan drugs had been developed; since the Orphan Drug Act, more than 220 new orphan drugs have been marketed in the United States and more than 800 additional drugs are in the pipeline.
