By: Debra Y. Lewis, OD MBA

This week we commemorate the fifth annual Rare Disease Day, a global campaign to raise awareness of the millions of people worldwide who suffer from rare diseases. In the United States, about 30 million Americans have rare diseases, so in reality, rare diseases are not so rare when viewed together as a group.  Because of the recognition of the need for therapies for rare diseases, today FDA held our first-ever Rare Disease Patient Advocacy Day.  

FDA designed Patient Advocacy Day to help patients and caregivers engage with us on issues related to drug and medical device development for rare diseases and conditions. Today gives rare disease patient advocates the opportunity to meet with FDA staff and learn more about how FDA works. And, as we come together with colleagues, families, patients and advocacy groups, it gives FDA a moment to reflect on recent news in helping people with rare diseases. 

We often talk about how important the Orphan Drug Act has been in bringing treatments to people with rare diseases – notably children with rare diseases. And we can see its impact. A new study published this week in Pediatrics highlights the progress we’ve made over the past 10 years in bringing treatments to children with rare diseases. The study reports that from 2000 to 2009, 1138 “orphan” drugs were designated and 148 received FDA approval, of which 38 were for pediatric diseases. The proportion of approvals for pediatric products increased from 17.5% in the first half of the decade, to 30.8% in the second. Orphan Drug Act incentives have led to increased product availability for rare diseases overall, with an increasing number of marketing approvals for children in the past decade.

And in 2011, FDA approved 26 drugs and biological products for rare diseases.  About one-third of all new molecular entities approved by the agency were for rare diseases. FDA also approved six medical devices for rare conditions under the Humanitarian Device Exemption program in 2011. We are very proud of the collaborations between industry, patient advocates and FDA that have made this a reality.  

There are over 400 drugs and devices approved for rare diseases and conditions, and millions of lives have been saved or improved with these new products. However, we still have much to do to meet the rare diseases challenge – there are 7000 rare diseases and most are without a current treatment available. Meeting this challenge is the focus of FDA’s Patient Advocacy Day today and will continue to be in the coming years as we strive to improve the lives of all Americans impacted by a rare disease.

Debra Y. Lewis, OD MBA, is Deputy Director of FDA’s Office of Orphan Products Development