Christian Werner, Executive Director, Global Medical Affairs, Global DMD Lead, PTC, believes the “totality of evidence” provides an important understanding of the impact of a unique treatment. In this article, he shares strategies for broadening the adoption of the totality of evidence.
As a physician working in rare disease drug development, I am convinced that only the ‘totality of evidence’ gives a true understanding of the impact of a novel treatment. That’s looking at the big picture evidence garnered from randomized controlled trials (RCTs) and use in a real-world setting. While some across the industry are starting to recognize the importance of this collective data, there’s still work to be done. This is especially important for families around the world who are living with devastating, life-limiting rare diseases that have no treatment options.
PTC Therapeutics has a long-standing commitment to Duchenne muscular dystrophy, a rare disease that causes irreversible muscle-wasting from early childhood. Previously we presented evidence from a long-term RCT and from our STRIDE patient registry, which has been gathering evidence on treatment in the real-world since 2015. I listened to clinicians who expressed how meaningful this totality of evidence is, because it combines the benefits of the control and reliability of clinical trials, with the true lived experience of the patient population, over many years.
So how can we broaden the adoption of the totality of evidence so that it translates to faster access to much-needed new therapies, especially in rare disease?
First, it’s about educating on the unique challenges of developing novel therapies in rare diseases. RCTs are still generally viewed as the gold standard in the hierarchy of clinical studies. But in rare diseases, it’s difficult to recruit enough participants, and rare diseases are typically under-researched and therefore a comparative ‘standard of care’ or even a good understanding of the natural history of the disease may not exist.
Second, it’s about reinforcing the value of the wealth of real-world evidence (RWE) collected from patient registries. These are less burdensome on the patient, provide a true picture of treatment effect in the real-world, over a longer period than clinical trials, and can include a broader range of patients.
It is promising to see regulatory bodies increasingly recognizing the credibility of RWE. Last year, the US FDA published their final guidance on submitting RWE as part of their regulatory review process. Additionally, the European Medicines Agency (EMA) published a report in Frontiers in Pharmacology which considered the importance of patient registry data in the regulatory appraisal of orphan treatments for patients who have few treatment options.
Finally, we need to find ways to standardize the collection of real-world data to encourage its uptake by reimbursement authorities. At present there are a number of initiatives supporting these efforts. As the significance of RWE becomes more widely acknowledged, patients and their families have no time to lose.