Lucas Kempf, MD: FDA and Rare Disease Therapies

With 7000 rare diseases and the vast majority of them lacking approved treatments, the outlook for many patient populations is often bleak at best.

That is the onus behind the US Food and Drug Administration’s(FDA) Rare Diseases Program, Office of Orphan Products Development, and other recent pushes seeking to improve access and provide treatment options for patients with rare diseases.

The progress these various programs and policy changes have made on the lives of those with the disease and their care providers was the subject of many discussions at the 2019 National Organization for Rare Diseases (NORD) and Orphan Products Breakthrough Summit.

Few clinicians, researchers, or advocates have had as up close and personal of a view point on these changes and advances as Lucas Kempf, MD, associate director the FDA's Rare Diseases Program. To get his take on how a greater emphasis and push for treatments has impacted rare diseases has impacted the space.

MD Mag: How have FDA programs encouraging the development of therapies for rare diseases impacted clinicians and patients?

Kempf: So, the impact is huge. For many of these rare diseases, the majority of them have no therapies. Over 90% of them don't and for the few that actually managed to now develop a drug, they're starting to deal with more complex issues, like how can we make this drug better, how can we deal with issues that we never even thought about. So, you could think about CF—cystic fibrosis.

When I was young the life expectancy for those folks was in their teens. Now, they're dealing with questions of how do you maintain CF when you're in your 40s, 50s, and 60s, which is a question that nobody just a few decades ago would even think about. Drugs are now being developed for the complications that happen after you've been on these drugs for a long time or the bacteria that may now be resistant to things that you used to be able to just simply treat or you never had to treat because life expectancy was so bad.

So, we're seeing that—that's one example, but there's been many of those examples and it's fundamentally transformative to a rare disease population when they do first get a drug on the market. People know that it can be done and then other companies come in and start trying to develop or innovate in that space.