In this article, Peter Persson and Ben Tichler (both Biogen) discuss the role of real-world evidence in rare diseases, specifically spinal muscular atrophy, and how real-world data can be used to accelerate treatment options for people with rare diseases.
“It’s like clinical trials provided the fuselage and wings, and real-world evidence (RWE) is enabling us to build the rest of the plane while flying.”
Peter Persson, Head of Marketing SMA (Rare Diseases) at Biogen, is talking about the essential role of RWE in rare diseases such as spinal muscular atrophy (SMA). This genetic, progressive, neuromuscular disease affects an individual’s ability to perform the basic functions of life, such as walking, eating and, ultimately, breathing.
“In a rare disease like SMA, which previously had no existing effective treatments, the patient unmet need is extremely urgent, and there’s no time to wait,” he says. “The onus is on the clinical trial environment to prove a treatment’s effectiveness and safety in the patient population with the greatest unmet need. In the case of SMA, that’s infants and children because of the increased severity of the disease early in life. RWE can then be used to build the bigger picture in other populations such as adults, to help fulfil the treatment’s full potential and deliver on its promise.”
The strict rules that regulate randomized controlled trials (RCTs) mean that they may not always reflect the experience of real-world patient populations. Data from RWE meanwhile is collected from patients who are being treated ‘in the real world,’ going about their everyday lives.
In addition, whereas many RCTs are placebo-controlled in rare diseases such as SMA, it is ethically unacceptable to give patients a treatment with no therapeutic effect to simply provide a comparison arm. This increases the need for real-world studies even further.
Ben Tichler, who is a Pharmaceutic Physician at Biogen, believes RWE has become critical for answering the questions clinical trials can’t address. “Patients need to have information to inform a realistic expectation of what their therapy can provide, its benefits and its risks,” he says. “In the real world, people can’t always attend appointments, or life gets in the way of treatment. It can make it more complex to interpret data. RWE gives you a realistic view of the benefit of treatment in the real-world setting.”
Standing on the shoulders of giants
The progress in SMA is incredible. A few years ago, there were no effective therapies for people living with the condition. This meant that SMA was, tragically, often fatal for a child within the first 2 years of life. Since 2017, three treatments have been approved, and today, the SMA community is seeing children diagnosed with SMA thriving. Now, RWE is becoming pivotal in providing the evidence needed to ensure adults with SMA have access to these essential treatments too.
“The beauty of science is that it’s all about standing on the shoulders of giants, always adding to the knowledge that has come before,” says Ben. “The more we learn through RWE, the more we understand about the disease and the treatments, and the more that patients will ultimately benefit. Through RWE in SMA, researchers have been able to show the benefit of treatments in adult populations, and of treating early in pre-symptomatic patients, opening up many new avenues of exciting research.”
This in turn provides opportunities for patients to ensure that their priorities are reflected in studies.
“Our real-world observational studies shine a light on new scientific questions, such as whether the scales we use to measure the impact of SMA and treatment-effect really capture what matters most to patients,” says Peter. “For example, we know now that for many patients with SMA, factors such as being able to operate their wheelchair, or move themselves on and off the toilet are crucial to their quality of life. These sorts of details have generally not been captured in studies in the past.”
Another exciting avenue of research opened up by real-world studies is digital biomarkers and tools and use of artificial intelligence (AI). Biogen is advancing research to evaluate biomarkers and digital tools that help to better predict and monitor the course of SMA, at maximum convenience for patients. Meanwhile, advances in AI will mean that analysis of large quantities of data can lead to meaningful insights more rapidly.
Proving the promise
Central to the growing impact of real-world evidence is the quality of data collection and the collaboration of stakeholders including patients, healthcare professionals, industry, regulatory and public health agencies, health technology assessment bodies, payers and academia. The European Medicines Agency – which decides whether new therapies are approved for use in Europe – recently published its vision for real-world evidence, where by 2025, the use of real-world evidence will have been fully enabled and the value will have been established across the spectrum of regulatory-use cases.
All of which increases the potential to continue delivering on the promise of innovation and improve the outcomes of patients with SMA and many other conditions.
“The plane may be under construction, but it’s already arrived at some very exciting destinations,” says Peter. “RWE not only allows us to prove the promise of our therapies, but also opens up new horizons. For that reason, I’m very excited about the future of innovation in SMA.”
Meet the authors
Peter Persson is Head of Marketing SMA (rare diseases) at Biogen, where he works to shine a light on the need for a greater focus on rare diseases and to highlight what Biogen is doing to make a difference for patients with SMA.
Ben Tichler is Global Medical Director (rare diseases) at Biogen. Ben is passionate about innovation in rare disease such as SMA and works to advance understanding and progress in these diseases.
Source: https://www.neuro-central.com/building-the-plane-while-flying-how-real-world-evidence-is-accelerating-treatment-options-for-people-with-spinal-muscular-atrophy/