Discovering More Ways to Treat Rare Disease

When you hear the word rare, you probably immediately think of something hard to find; a needle in a haystack, so to speak. But take a closer look at the numbers, and calling a rare disease by that name seems like a misnomer. That’s because when you add up all the people living with each of the more than 7,000 identified rare diseases you get about 30 million Americans, or nearly 1 in 10 U.S. residents.

Sometimes called "orphan" diseases finding treatments for this set of uncommon illnesses is far from easy. Yet every day, thousands of people, including patients, scientists and researchers, doctors and specialists, legislators and regulators, and many others, work toward that exact goal. We’ve made tremendous progress. Before Congress passed the Orphan Drug Act in 1983, the Food and Drug Administration (FDA) had approved just 38 medicines for the treatment of rare diseases. Since then? 249.

As science evolves and we learn more about rare diseases, the medical community has been able to work at an unprecedented pace in the search for therapeutic options for these smaller patient groups.  However, there is still work to be done – especially in pediatric disease, where rare conditions are prevalent.

In response to the risks and challenges associated with the development of medicines for children, legislative action has been taken to require and encourage the repurposing of medications approved for use in adults for pediatric use.

Prior to the reauthorization of the Pediatrics Research Equity Act (PREA) and the Best Pharmaceuticals for Children Act (BPCA) in 2007, the FDA approved made 256 similar changes over the course of nine years. After the reauthorization in 2007, the FDA approved 130 product labeling changes in three years. While repurposing of adult medications has been responsible for the many advances in pediatric medicine today, this is not always an option for some pediatric rare diseases.

For example, as we learn more about pediatric cancer, we continue to see that pediatric cancers are biologically different than adult cancers and using adult medications may not be the best solution. To ensure that children diagnosed with cancer have safe and effective treatment options for them, innovative development is needed. To encourage developers to research and tailor treatments and dosages specifically for children, we need incentives to reward repurposing of adult medications and developing medications meant specifically for pediatrics.

Programs like the BCPA, which offers companies that conduct research to fine-tune pediatric medicine six months of guaranteed patent exclusivity has proven very effective. The rare pediatric disease priority review voucher, which incentivizes innovative development of medicines for rare diseases in children, may give millions of families new treatment options as well. But because the voucher was created in 2012 and the drug development process takes 10-12 years, theoverall effectiveness of the voucher is still in question.

Finding a cure, or even a treatment, for every type of rare disease poses a big challenge. We’ve made progress but if we want to give these patients a chance at a better quality of life, we need to start somewhere--and we need to start now. Creating and continuing the programs that encourage leading companies to develop and test new medicines for children with cancer, and many other orphan diseases, is a big step in the right direction.