Rare Disorders Without Borders: An International Strategy

By: Katherine Needleman, Ph.D.

The development of 200 new therapies for rare diseases and diagnostic tests for most rare diseases would alleviate untold suffering. So with great enthusiasm, FDA’s Office of Orphan Products Development (OOPD) has joined a global effort to make those goals a reality by 2020.

These are the goals of the International Rare Disease Research Consortium (IRDiRC),  launched by the European Commission and the U.S. National Institutes of Health in April 2011 to foster collaboration in rare disease research. FDA’s OOPD recently joined IRDiRC’s Executive Committee. When the consortium holds its first major conference in Dublin in April, top experts and researchers from around the world will share information and foster collaborations.

Collaboration is critical. Rare disease resources, including experts, are so limited that we cannot afford to waste a single moment by duplicating work or failing to share promising developments. Products for rare diseases are often called “orphan products” because they generally lack sponsors to develop them.

Some rare diseases affect only a few hundred people, and by FDA’s definition, each one affects no more than 200,000 people in the U.S. Yet taken together, about 7,000 rare diseases afflict about 30 million Americans and a similar number in Europe. In much of the world, they go undiagnosed. Often, they are debilitating or deadly. Many are genetic, so children are often victims.

Today, on Rare Disease Day 2013, the international rare disease community comes together with the theme “Rare Disorders Without Borders,” and FDA continues its commitment to close collaboration with international counterparts, such as the European Medicines Agency.  

FDA is the first regulatory agency to join the consortium’s Executive Committee. In addition, FDA is represented on the consortium’s Therapies Scientific Committee by Marc Walton, M.D., Ph.D., in FDA’s Center for Drug Evaluation and Research. We hope to bring regulatory scientific perspectives that help develop great research ideas into great products that meet regulatory approval standards for safety and effectiveness.

FDA has been working to change the orphan status of rare diseases since 1983, with the passage of the Orphan Drug Act. Since then, FDA has approved over 400 products for the treatment of rare diseases, compared to only 10 developed by industry in the decade before the act.

OOPD’s grant program uses its annual budget of approximately $14 million to fund top scored clinical trials of rare disease treatments. The grants program has been successful, as at least 49 OOPD grants supported clinical trials that contributed to agency approval of these products for rare diseases.

Still, for most rare diseases, there are no treatments, or definitive diagnostic tests.

Recent progress in human genomics and newly emerging sciences increase the prospect for treatments or even cures. A new generation of therapies even shows promise for changing the defective genes that result in some rare diseases. These are among the topics that will be addressed at the upcoming conference.

Our OOPD Director, Gayatri Rao, M.D., J.D., will present FDA’s perspective at the IRDiRC meeting while I will be working on the challenges ahead through the Executive Committee as FDA helps ensure that the energy and expertise brought to the conference is harnessed to bring results to patients.  

The need is great; the time is now.

Katherine Needleman, Ph.D., is director of the Orphan Products Grants Program of FDA’s Office of Orphan Products Development.

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