Drug Safety and the Fight Against Rare Diseases

Small Patient Populations Pose Unique Challenges for Safety Scientists

Peter Hawkins, Senior Director, Head of Rare Genetic Disease Risk Management at Agios Pharmaceuticals, joined the Safety Signals Podcast for a discussion on the safety challenges faced by sponsors developing medicines for patients with rare diseases.

“There’s not a lot of knowledge about what these patients are like in general,” he said. “And so…we use any sort of information we can get to try and put these patients in context.”

Mr. Hawkins added that the most important thing a safety scientist can do when working up a new safety signal is to try and determine whether it’s the drug, the disease, or a comorbidity that’s driving it.

Because patient populations can be incredibly small–only 300 people are known to have the particular indication Mr. Hawkins is currently developing treatments for–real-world data is critical for helping define a drug’s risk profile.

“You can easily jump to the wrong conclusion if you don’t know enough about the patient population,” Hawkins said. “And you can really end up in a situation where you’re providing the wrong information in the label…You don’t want that.” Hawkins said that patients need to know what risks they may face before they take a new drug or sign onto a clinical study.

Hawkins says that historical studies and patient groups are valuable sources of information for clinical researchers and safety scientists alike. “Quite often, patient groups have databases and pieces of information that they can make available, and they’re happy to share with us about living with the disease,” he said. “We do try and use as much data from as many sources as possible when…designing a trial and looking at what kind of endpoints are going to be important to the community.”

It’s Time to Work Smarter

As drugs and treatments get more complex…it’s going to be more difficult to try and work out…what drugs are really causing what reactions,” Mr. Hawkins added. “There’s going to be a need for… better data collection, better data analysis, and perhaps more thoughtful analyses…We’re always taught correlation is not causation but I think we need to think even more deeply than that and really try and…work out the proportion that each stroke contributes to each event, and to really get an understanding of what’s happening.”

In order to facilitate this enhanced understanding, Mr. Hawkins believes that the industry needs to move away from outdated, labor intensive processes, and look for new ways to analyze data from people who might come to a clinical trial without fitting into normal standards. “Our connections with pyruvate kinase deficiency…all come into the study with grade one hyperbilirubinemia,” he said. “And so we need to think about how we actually assess those values…What does a change in bilirubin level look like? And why is that important? And how is that a measure of either the drug working or the drug causing a liver effect?”

As Mr. Hawkins and his team at Agios scale treatments for wider audiences, he can see a future need for algorithmic signal detection and defined workflows for detecting, validating, and escalating safety signals. “How great it would be to have it all in one place,” he mused. “You just click on the signal of interest and you can see all of the evidence that you used to view it, you can see all of the decision makers, how it was made, or the minutes from the meetings.”

This post is based on an episode of the Safety Signals podcast. To hear more, check us out on Apple Podcasts, Spotify, or on our website.

The views of the hosts and guests featured on Safety Signals are their own and do not necessarily reflect the views of Saama or the individual companies for which the guests may work.