Rare diseases are those that affect populations of 200,000 or less in the United States. Approximately 7000 such diseases,
including certain congenital conditions and rare cancers, exist in the US, and they affect nearly 25 million Americans. New
drug applications for these diseases can be submitted simultaneously to FDA and EMA and receive priority review under orphan-drug
provisions, and multiple grant programs exist for rare-disease research. For years, many bio/pharmaceutical companies have
turned a blind eye to developing products for rare diseases because such medicines have a small consumer base, and thus fall
short of meeting desired revenues. Efforts to pay attention to these conditions and find cures for them, however, are gaining
Why now? According to Steve Groft, director of the National Institutes of Health (NIH) Office of Rare Diseases Research, industry
and regulators have reached a point where guidance can be provided in this area. "There has not been tremendous interest in
rare disease research and treatments until the past 5 to 8 years," he explains. "There was some interest in the 1980s after
the Orphan Drug Act was passed in the US, but then we had the consolidation of the pharma industry, which led to an emphasis
on larger blockbuster drugs. In 2000, Europe developed its orphan-drug legislation, and that stimulated more product development
in this area. Today, industry realizes there are niche markets available for rare-disease treatments and that it can be a
profitable market. There is increased interaction between the scientific and the patient-advocacy communities. And, most important,
we are now able to look at results of years of basic research on rare diseases and better understand them," he says.
Groft is part of a unique project that began in October 2010 to develop a diagnostic tool for most known rare diseases. Known
as the International Rare Disease Research Consortium, NIH and the European Commission are leading the global scientific community
to find treatments for the world's most disregarded medical syndromes and conditions.
The consortium's first target is no drop in the bucket—the goal is to find new therapies for 200 rare diseases by the year
2020. "There is no list of targeted diseases yet," says Groft. "This is the master goal. We're just beginning to identify
possible compounds and diseases that may be considered—some may be used for multiple diseases—and to enter them into clinical
studies." The project involves research and development into new molecular entities as well as looking at already approved
drugs to see whether they can be repurposed for rare diseases and made available to new populations. "Currently, only 10 to
20 products are approved per year for all diseases, and we feel there is a need to do better than that," adds Groft.
To meet its goal, the consortium would like to see harmonization of clinical trials for small patient populations and the
standardization of trial-data collection. "We need global acceptance of how to do the trials, and we need patients from many
different countries to have enough to complete a study more quickly. We're trying to develop a plan and process that people
can use to coordinate efforts to better minimize redundant research," explains Groft. If research-data collection efforts
can be standardized in a common protocol, drug-product developers will be able to use and submit that data to regulatory agencies
in a much easier way—and the regulatory authorities will receive better research results to evaluate.