We often hear the term “rare disease,” yet many of us still wonder exactly how “rare” is defined. In a recent blog post, Dr. Jonathan Goldsmith, the FDA’s Associate Director for Rare Diseases, shared some staggering statistics, as well as insights into how the FDA is making it easier to develop drugs for unusual conditions.
By definition, a rare disease is a medical condition that affects fewer than 200,000 people in the United States (the definition varies by country). While each rare disease impacts a “small” population (when compared to more common conditions, such as diabetes), these numbers will give you a completely different perspective:
- 10% of the population in the United States has a rare disease
- There are 7,000 different rare diseases known to-date
- 80% of rare diseases are due to faulty genes
- 50% of the people who have a rare disease are children
Due to the (relatively) small size of the rare disease population – and the fact that half of that population consists of children, who have extra protections in clinical studies – the medical community simply doesn’t have a good understanding of most rare diseases and therefore struggles to identify promising compounds and design effective trials. These consequences make developing drugs for rare diseases exceptionally challenging.
Fortunately, the FDA has shown a tremendous amount of flexibility, without compromising safety and quality, in supporting the development of treatments for rare diseases. Last year alone, 17 of the 41 novel drugs approved were for rare diseases. With the FDA’s continued support (they just released this draft guidance document, along with a focus on precision medicine), we can be sure more drugs will be developed for the tens of millions who suffer from rare diseases.
If you have feedback on the draft guidance document, Rare Diseases: Common Issues in Drug Development, be sure to submit your comments to the FDA by October 16, 2015.
