This article is part of our special report Life with SMA: challenges and solutions.
For people living with spinal muscular atrophy (SMA), access to suitable and effective treatment often depends on which EU country they live in. Stakeholders are now calling for equal access to standards of care across the bloc.
Spinal Muscular Atrophy (SMA) is a rare genetic neuromuscular disease that affects the central nervous system, peripheral nervous system, and voluntary muscle movement.
It is typically diagnosed in children and causes muscles to weaken and deteriorate. This can impact essential developmental milestones, as well as everyday activities such as walking and eating.
SMA affects approximately one in 10,000 live births globally, with an estimated incidence in Europe ranging from one in 4,000–16,000.
While there is no cure, treatment and support can manage symptoms and help people enjoy an optimum quality of life.
However, even SMA treatments approved at the regulatory level might be not reimbursed in certain EU countries, resulting in long delays for patients before gaining access to these standards of care.
This creates a substantial disparity as the availability of innovative treatments alone is not enough to improve access to SMA care since different standards of care also require viable access pathways in each member state.
Patients in the EU can access health treatments not available in their home system, as per a cross-border healthcare directive.
Tomislav Sokol, a Croatian Christian-democrat MEP, explained at a recent event, “If you cannot get adequate treatment for certain diseases, especially rare diseases in your country, you’re entitled to get this treatment in other member states to be covered by your own health insurance,” adding that many patients are not aware that such a document exists.
Sokol continues to explain that patients are required to pay for the treatment upfront “and then ask for reimbursement afterwards from their home system, which is a big problem.”
He added that “especially rare diseases are one of these areas where the member states cannot resolve problems y themselves, and they need help at the European level.”
“We need common European action and policies to resolve these problems,” Sokol said.
Early detection is crucial
Speaking at the same event, Maggie Walter, a neurology professor at Ludwig-Maximilians University in Munich, explained that the patient loses motor skills throughout life, regardless of their age or the type of SMA they have. “Therefore, treatment at any stage is crucial, and early treatment is the key,” she said.
According to David Nestor, head of neuromuscular diseases at the biotech company Biogen highlighted that before standards of care were available, “diagnosis of SMA meant either early death or a lifetime of progressive disability.
Nowadays, thanks to these available standards of care, “infants born with SMA have a chance to do some of the normal things that a lot of us take for granted, to walk, to run, to play, to be able to go to school, to have independence,” he said.
“It has been a phenomenal achievement. But it doesn’t stop here,” he warned.
Other mentioned proposals include a second opinion from foreign experts for the best treatment, simplifying the reimbursement procedures and improving the health infrastructure in the member states using the EU funding.
Progress needs to be made
To better understand the policy and access environment in Europe for people living with this rare disease, the umbrella organisation of patient and research organisations, SMA Europe, has developed the white paper ‘Assessing the policy and access environment across European countries for SMA patients’ and the accompanying ‘SMA Policy & Access Tracker’.
Both documents, developed with Biogen and in collaboration with Charles River Associates, offer a comparative assessment of access to SMA care and policy across 23 European countries. The documents also put forward policy recommendations to improve access to care for people living with SMA in the region.
Presenting the findings, president of SMA Europe Nicole Gusset said that study results on five different policy areas surrounding SMA standard care give a “frighteningly heterogeneous picture across Europe.”
The policy areas looked at covered policy, healthcare system preparedness, diagnosis, access pathways and access to treatment and care.
Biogen’s Nestor added that the tracker illustrates that the complexity of SMA patient management continues to present many challenges in many European countries.
Many adult patients still face significant barriers to receiving standards of care. Some also have to rely on individual funding decisions, leading to limited delay and inconsistent access to innovative therapies.
The barriers, though, are not the same in each country. As Gusset said, differences across the bloc regarding access to treatments “caused and still causes enormous distress in our community”.
However, it is not only about access to standards of care.
“Patients require support from a multidisciplinary care team to manage a range of complications which can result from the disease,” Biogen’s Nestor said.
Optimal care includes many different disciplines such as genetic diagnosis and counselling, regular physical therapy and rehabilitation, and orthopaedic care.
Another missing stone – legal requirements to ensure the usage of innovative medicines, also has drawbacks that SMA patients feel.
Gusset said that “there is a link missing between the requirements we have from clinical trial designs and approval to access.”
Access provisions available to support fast patient access to SMA standard of care are also needed. Additionally, reimbursement pathways should consider the specifics of rare disease products to capture the value they deliver to rare disease patients and their carers.
[Edited by Gerardo Fortuna/ Alice Taylor]