What exactly is Biogen’s commitment to rare diseases in Europe?
Biogen is first and foremost a pioneer in neuroscience. There is no other area of medical science that holds so much promise – and where there is so much unmet need. That’s why we are investing in developing and delivering innovative new treatments for neurological diseases. Our focus on rare diseases is rooted in our expertise in neuroscience and our mission to change lives. We are committed to making a positive difference for the rare disease community. I am very proud of what we have achieved as pioneers in Spinal Muscular Atrophy (SMA), a rare neurodegenerative disease and the number one genetic cause of death for infants in Europe. Even though there is still no cure, the lives of people with SMA have been transformed. Before treatments were available, an SMA diagnosis meant either an early death or a lifetime of progressive disability. Babies who were unlikely to reach their second birthdays are now living fuller lives. Older children have experienced continuous improvement, while adults have maintained motor function. This is a phenomenal achievement, but it doesn’t stop there. We are currently working on a range of treatments for rare diseases, such as Choroideremia, Trigeminal Neuralgia and Amyotrophic Lateral Sclerosis (ALS).
A major challenge faced by rare disease patients is early diagnosis. Why is this especially important in SMA?
Around 80 percent of all rare diseases have identified genetic origins and 50 percent of people affected by rare diseases are children. SMA is one of them. In the case of SMA, evidence demonstrates that treating affected children before symptoms appear significantly increases their chances of survival and of achieving age-appropriate milestones, like independent sitting and walking. In other words, an early diagnosis can determine whether babies born with SMA have the chance to celebrate their second birthday. However, most countries in Europe are still not testing for SMA at birth. Systematically testing babies for SMA just after birth could make a tremendous difference.
"An early diagnosis can determine whether babies born with SMA have the chance to celebrate their second birthday. However, most countries in Europe are still not testing for SMA at birth"
What is the current situation in Europe regarding newborn screening?
There are significant disparities across Europe regarding diseases covered by newborn screening panels. Some countries cover more than 40 diseases and others less than five. These inequalities provide a strong argument for a common newborn-screening framework at European level. Regarding SMA, Patient Advocacy Groups are supportive of newborn screening and are playing a critical role in driving its adoption. Biogen works closely with the SMA community, supporting pilot studies in Italy, Germany, Belgium and other countries to assess the clinical value and cost effectiveness of newborn SMA screening. A recent German newborn screening study of more than 165,000 infants showed no increase in incident rates but did make it possible for infants to have early access to treatment. In other words, newborn screening helped ensure early treatment without identifying more patients than would eventually have been diagnosed. Newborn screening is vital for an early verified diagnosis and further consideration of treatment options, which can deliver better patient outcomes. We encourage policymakers across Europe to include screening for rare diseases for which treatments are available.
The limited amount of data on treatment outcomes is a major issue when it comes to tackling rare diseases. What is Biogen doing to track real world evidence (RWE) of patients with rare diseases?
Biogen has worked in collaboration with researchers, clinicians and other stakeholders to establish more than 12 SMA registries around the world. Where clinical trials provide the evidence of safety and efficacy needed for approval, RWE helps clinicians, researchers, regulators and payers to understand how treatments work in practice. We support the creation of European guidelines for the establishment and maintenance of disease registries. When registries are built through collaboration between industry, clinicians, researchers and regulators across Europe, we can create an invaluable resource. A consistent approach will lead to better understanding of the disease and ultimately improve patient care. EU institutions and Member States can play a vital role in this area. EU structural and investment funds, for instance, could help strengthen data-gathering capacities in hospitals across Europe, while EU programmes, such as the Innovative Medicines Initiative and the European Reference Network, could help standardise definition of outcomes, data collection, the interoperability of systems, as well as the uptake of digital technologies. As a pioneering company, we strongly believe in the benefits of technology, such as AI, to support the creation and use of RWE.
"30 million Europeans are living with a rare disease and 95 percent of those diseases still lack a treatment option. Joining forces to ensure a stable regulatory and incentive framework will enable us to continue on this successful path of bringing innovation to patients in dire need"
The European commission is currently assessing the impact of the orphan regulation, which provides special market exclusivity and regulatory data protection for rare disease treatments. What is Biogen’s view on the regulation?
Since the introduction of the orphan medicinal products regulation in 2000, 164 orphan products have been approved, where only eight existed before. The orphan regulation has successfully incentivised companies to invest in rare disease treatments, which was its primary purpose. 30 million Europeans are living with a rare disease and 95 percent of those diseases still lack a treatment option. Joining forces to ensure a stable and strong regulatory and incentive framework will enable us to continue on this successful path of bringing innovation to patients in dire need.