The Syneos Health Podcast

Real World Evidence and Rare Diseases

January 13, 2021 Jeffrey Stewart
The Syneos Health Podcast
Real World Evidence and Rare Diseases
Show Notes

How rare is a rare disease? On their own they can be quite scarce, but did you know that one in ten people in the U.S. is afflicted with a rare disease? That’s over 30 million people. And that’s a big problem. But how do you study treatments when it’s so difficult to find patients for each rare disease? That’s when it is time to leave the lab and take a look at the real world. 

In this episode, we are joined by Syneos Health experts Dr. Raymond Huml, Vice President, Medical and Scientific Strategy, Head of the Rare Disease Consortium and Dr. Javier Jimenez, Executive Vice President, Real World Evidence and Late Phase. They draw on their history working with rare diseases and the challenge of developing treatments for these conditions. For diseases that are so scarce you cannot just use clinical trials, you need to incorporate real world data. The challenge becomes combining these sources of information to create the treatments that patients desperately need. Drs. Hummel and Jimenez discuss their experience navigating this difficult field and how to get the information that everyone, from regulators to biopharma companies, needs to treat rare diseases.

For more content on rare disease drug development, check out:

  • Our webinar on the role of patient advocacy groups in rare disease drug development;
  • This report on accelerating rare disease drug development – lessons learned from muscular dystrophy; and
  • This paper on creating an integrated development plan in orphan and rare diseases.

 If you want access to more future-focused, actionable insights to help biopharmaceutical companies better execute and succeed in a constantly evolving environment, visit the Syneos Health Insights Hub. The perspectives you’ll find there are driven by dynamic research and crafted by subject matter experts focused on real answers to help guide decision making and investment. You can find it all at

Like what you’re hearing?  Be sure to rate and review us!  

We want to hear from you!  If there’s a topic you’d like us to cover on a future episode, contact us at [email protected]