Global Healthcare on the Ground: NIH Aims to Help Treat 200 Rare Diseases

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Pharmaceutical Technology, Pharmaceutical Technology-08-02-2011, Volume 35, Issue 8

NIH leads new international consortium to develop a diagnostic tool for most known rare diseases by the year 2020.

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 momentum.

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.

Common data elements can also provide a framework for patient registries to be developed and, looking ahead, says Groft, scientists may be able to use that information for natural-history studies and to develop biomarkers for clinical trials. "We should be able to do the same thing for rare diseases that is being done for cancers and for HIV/AIDS products," he says. Public communication and distribution of the information are also part of the plan.

The consortium plans to build on already existing models for some rare diseases that have received more attention than others over the years, such as certain muscular dystrophy conditions and cystic fibrosis. "These discovery and development efforts have taken a global approach, and we can use those as examples and build on those successes," says Groft. For example, the consortium would like to have the same analytical tools available on all project-relevant clinical-trial sites and the services of a data-coordination center.

NIH is also working with FDA to create a national policy for rare-disease research and related drug regulation. FDA boosted its own rare-disease efforts this past year with a newly created position in the Center for Drug Evaluation and Research, an Associate Director for Rare Diseases, and the launch of a free searchable database that lists approved compounds and products that may help researchers in their search for treatments for rare diseases. "Overall, this is an opportunity to facilitate partnerships," says Groft. "We've been talking about rare diseases for years. Individuals have been developing many of these pieces, and now is the appropriate time to put all those pieces together. The result should be a larger number of products available for the rare-disease community."

For more information, contact NIH's Dr. Groft ( or the EC's Catherine Berens ( To listen to a podcast interview about NIH's global health efforts with Director Francis S. Collins, visit