Rare Disease Trials: The Pros and Cons of Small Patient Groups

Patient enrollment is the leading cause of missed trial deadlines across all drug trials, with 80% of clinical trials failing to meet their milestones. Recruiting an adequately-sized study group is difficult for any trial, but even more so for rare and orphan diseases.

Flemming Ornskov, chief executive for Shire, believes that we need to reimagine rare disease trials from the ground up, taking into account the time that it takes to diagnose and identify patients, get them to the treatment centre (which could be in a different continent), and complete follow-up. The process could take up to a decade.

“The investment is of a different profile than if you did a short-period clinical trial for a well-known disease,” Flemming concludes.

The benefits of intimate trials

Part of this investment involves forming a different kind of relationship with trial participants. With small international patient populations, researchers need to work closely with their test groups, reacting quickly to their individual needs and getting to know their experience on a more personal level.

Flemming gave the example of paediatric rare disease trials, in which intimate and supportive relationships form between doctors, children and families. Because patient groups are so small, relationships are closer than is typical in larger, mainstream trials.

This intimacy spills over into patient support groups, which often comprise of under ten families. These groups raise awareness and represent the interests of patients, allowing them to have their say in the way the trial experience affects patients.

Diano Ribiero of rare disease support group Action Duchenne believes that this closeness has benefitted patients, stating that “over the past few years, things have really improved in terms of companies taking on our advice and putting forward our patients’ voices.”

The future for rare disease trials

Investing in long-term rare disease trials, and the relationships that rise from them, could be highly beneficial to drugs manufacturers in the long term. According to EvaluatePharma, global sales of orphan drugs are forecast to grow by more than 11 per cent per year to $209bn in 2022.

This projected growth is down at least in part to regulatory developments following the USA’s 1983 Orphan Drug Act, which sped up regulatory approval for orphan drugs and provided protection from competitor products. In 2009, the EU continued down this line with guidelines for aligning diagnosis, treatment and support for rare disease patients.

In order to embrace the benefits of rare disease trials - both financially and in terms of improving patients’ quality of life - we now need to focus on patient recruitment more than ever. In particular, Michael Goettler, global President of rare disease at Pfizer, believes that healthcare systems need to be better aligned to diagnosing rare diseases.

By raising global awareness of rare diseases, we can help healthcare providers to recognise and prioritise such illnesses, giving drug manufacturers access to larger and wider patient groups, and allowing the important relationships between researchers and patients to grow all the sooner.

To learn more about patient recruitment, check out our blog on recruiting patients via Twitter. Contact us today to see how we can help with every aspect of your rare disease trial.