Rare Diseases in the EU: Learning from Spinal Muscular Atrophy

DISCLAIMER: All opinions in this column reflect the views of the author(s), not of EURACTIV Media network.

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The characters shown are real patients and the required consent to use their stories has been obtained from the patients and families. Photographs are for illustrative purposed only [Biogen]

This article is part of our special report Life with SMA: challenges and solutions.

There are 6,000 rare diseases identified to date and an estimated 30 million people living with a rare disease in Europe alone. Furthermore, there is no approved treatment for 95 percent of rare diseases. These staggering numbers demonstrate the urgent need to develop new therapies to address unmet medical needs, as well as the importance of ensuring that patients can access new therapies and receive optimal, timely care across Europe.

David Nestor is Biogen’s Head of Neuromuscular Diseases in Europe, Canada and Partner Markets.

Among these 6,000 rare diseases is Spinal Muscular Atrophy (SMA). SMA is a neuromuscular disease that robs people of physical strength by affecting the motor nerve cells in the spinal cord., It can take away their ability to perform the basic functions of life, such as the ability to walk, eat, and breathe. Before any treatment was available, a diagnosis of SMA meant either an early death or a lifetime of progressive disability. Babies born with the most severe form of the disease were unlikely to reach their second birthdays. Thanks to the treatments that have progressively became available over the last 5 years, SMA standard of care has been transformed. Infants born with the disease may now have a chance to walk, run, play, and go to school; the quality of life of adults living with SMA has also improved.

What can we learn from our experience with SMA?

First, medical innovation is essential to changing the lives of people living with a rare disease Advancements are intrinsically difficult in the field of rare diseases and require decades of committed scientific research. Most of the time, progress is gradual. As is the case with SMA, investments in rare diseases are still needed until a cure becomes available and all patient needs are met.

In this context, responsible investment should be supported by a conducive political and regulatory environment. The European orphan medicines legislation is a great example of how regulatory frameworks can drive innovation where it is needed the most and remains essential to manage the unpredictability of orphan medicinal product (OMP) development.

Secondly, innovation and access should go hand in hand so that advancements in science can reach the patients who need them. In the case of SMA, while more treatments are now available across most EU countries, getting to this point has taken a considerable amount of time. Today, many patients, especially adults living with SMA, still face significant barriers in Europe. Such delays are the result of multiple and complex factors, which cannot be addressed by the industry alone and require a stronger collaboration with governments and healthcare systems. The root cause of unavailability and delay to innovative medicines (EFPIA, June 2020).

Finally, rare diseases are complex to manage, and optimal care requires several other elements beyond treatment. As an example, patients with SMA require support from a multidisciplinary care team to manage the range of complications which can result from the disease. Optimal care includes genetic diagnoses and counselling, regular physical therapy and rehabilitation, orthopaedic care, growth and bone health care, nutritional support, and pulmonary care. Managing this complexity cannot be taken for granted.

In this context, we wanted to get a comprehensive view of the situation for SMA patients across Europe. We reviewed the key areas that are critical in ensuring that SMA patients can thrive, including political support to fight the disease, healthcare system preparedness, access to diagnosis and availability of treatments. The comparative assessment that we developed in collaboration with SMA Europe and with the support of Charles River Associates (also known as the SMA Policy & Access Tracker) analyses the situation in 23 different European countries across these different areas.

The research shines a light on existing gaps affecting people living with SMA in the EU and shows that the playing field is far from level. It also provides policy makers and healthcare stakeholders with a clear path leading to all European SMA patients benefitting from the best standard of care.

I look forward to a day where we will no longer speak in terms of challenges, but of opportunities for the whole SMA community.  I’m proud to say that, at Biogen, we’re strongly committed to making this happen.

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