SMA Europe: a global leader for change for people with spinal muscular atrophy
SMA Europe aims to bring effective treatments and optimal care to everyone living with spinal muscular atrophy (SMA). To do so, it must bridge varied contexts, embracing the experiences of people around the world. Dr Nicole Gusset, CEO and president, explains its approach
Written by Geoff Case, RARE Revolution Magazine
The “darkest day” of Nicole’s life was in 2011 when she was told, over the phone, after a challenging four-month-long search for answers, that her daughter Victoria had spinal muscular atrophy and that she should make the most of the time ahead. Victoria was just 16 months old.
“My world was breaking apart,” she says, “but on the other hand, Victoria’s world was not. Looking at her, she was the same as before. And that eventually gave me confidence to move on.”
Now 14 years old, Victoria is “a typical teenager and an excellent student who loves meeting with her friends, for real and in the virtual world”.
In the years since Victoria’s diagnosis, Nicole has juggled parenting with advocacy, advocating not only for her daughter—who has faced many barriers to accessing optimal care—but also for the SMA community in Switzerland and, latterly, throughout Europe.
“For us, it was a struggle to get information. We were sometimes confronted with health care professionals who did not know SMA or who claimed to know SMA but did not know it.”
– Nicole
Over the years, Nicole has admired the work of earlier presidents of SMA Europe as they have guided the organisation through a rapidly changing landscape. The advent of clinical trials and, more recently, the introduction of treatments meant that SMA Europe needed to evolve quickly, which she believes it has done “excellently”, sustained by a spirit of fellowship within the community.
Today, the organisation’s objectives include:
- promoting research that is relevant to patients
- improving access to diagnosis, optimal care and treatments for all patients in Europe
- building the capability and capacity of national patient advocates
- ensuring the sustainability of the organisation
Nicole chose four recent initiatives—from a much larger pool of ongoing projects—to give an introduction to how SMA Europe is working towards its objectives: the Priority Setting Partnership, the benchmarking report assessing the care provided to adults living with SMA in Europe, the OdySMA initiative and the SMAcademy.
Supporting research has been at the heart of SMA Europe’s work since it was founded in 2006. However, there have been concerns that SMA Europe has been concerned that research efforts in SMA are “not always 100% aligned with the community’s needs”. They may, therefore, not always be sustainable and impactful, Nicole explains.
To align the research better, SMA Europe engaged with the James Lind Alliance in a Priority Setting Partnership to identify unanswered questions about SMA from patient, carer and clinical perspectives. The long list of questions that followed an initial consultation exercise was systematically reduced, in consultation with stakeholders, and the top 10 questions for research were selected in a large workshop at the end of 2023.1
At the 4th International Scientific Congress on SMA in March 2024, SMA Europe brought together people who live with SMA and a diverse mix of other stakeholders to co-create a draft research agenda, based on these questions. When finalised, the agenda will inform SMA Europe’s future scientific congresses and its calls for research proposals.
“The outcomes of this project will ensure that research efforts address the needs of the community,” Nicole says.
“Even though SMA now has medicines on the market, it’s definitely not cured and there are still many critical unmet medical needs that are very important to our community and that need to be addressed.”
– Nicole
On Rare Disease Day in 2024, SMA Europe published a benchmarking report on care for adults living with SMA, highlighting the gaps in care across European countries.2 The benchmarking report project was the outcome of a partnership between SMA Europe and F. Hoffmann-La Roche Ltd. The report was made possible with funding provided by Roche as part of this partnership.
The report’s focus on adults living with SMA is important, Nicole explains, because there have always been people living with SMA who develop symptoms during childhood and then have unmet care needs as adults, but their needs have not been so much of a focus in the past.
“Identifying the gaps in this systematic way means we can pinpoint where exactly stakeholders need to invest resources.”
– Nicole
In February 2023, in its quest to achieve improved access to medicine and optimal care, SMA Europe launched the OdySMA project (named after the Greek hero Odysseus and his quest) to better understand the access challenges within each member country.
The team uses continually updated data from each country to colour-code maps of each European country, with red, orange and green markers showing how well numerous success criteria are met. The maps on the OdySMA platform now give national patient advocates a powerful comparative tool they can use to campaign for improved access. (Nicole explained the project further in RARE Revolution’s neurology edition.3)
SMA Europe has conducted training for member organisations to help them use OdySMA to advocate for change in their country, and more sessions are planned. “There is no one solution that will work for all the countries,” Nicole explains, “each country can decide how to use the tool to create the most impact.”
The next step for the project is “humanising” the data. Soon, personal stories from patients and patient advocates will be linked to single data points so advocates can show the real-life impact of a lack of access to medicines and care.
“With OdySMA, patient advocates can say to decision-makers, ‘In this country, we have this gap in care, but this country with comparable health economics doesn’t. Here’s the data, that’s the impact on an individual’s life, and that’s why we need change.”
– Nicole
Patient advocates have been the driving force for many achievements within the field of SMA. Keeping that momentum going depends, Nicole says, on educating as many people as possible so they can become advocates for the cause, reaching beyond national and even European borders. So, in March 2024, SMA Europe launched a new educational programme called “SMAcademy”.
The launch was during the Global SMAdvocacy Event in Belgium, and the activities there set the tone for the programme’s interactive approach.
“The spirit of SMAcademy,” Nicole says, “is about teaching each other and learning from each other. I’m convinced that together we have such enormous knowledge in the community that we can share so we can support each other and further drive impact —within Europe, but also on a global level.”
During “SMAckathon” sessions (the name is a playful twist on the word “hackathon”), advocates worked together in small groups to co-create solutions for real-world challenges, such as developing roadmaps for access to medicines and care, making the best of national registries and influencing policy. By the end, participants had tools they could take home with them to apply within their context.
This collaborative approach has much to commend it, Nicole believes. “Sometimes in workshops you get very creative with ideas, but at the end of the day you don’t have a tool to take away with you.”
“It’s really important to be sustainable, so we need to educate future patient advocates. Only with many people can we really address all the things we should be addressing. Education is really the key to maximising our impact.”
– Nicole
Through these initiatives and many others, SMA Europe is leveraging its capacity as an umbrella organisation to create change. By synchronising members’ diverse voices, it is empowering the community, making it stronger and more impactful every day.
“SMA is a rare disease,” Nicole says, “so we must raise one voice and stand together to create more impact, which is why our watchword is ‘all together, one goal’.”
Nicole cites recent successes—having 70 patient organisations at the SMAdvocacy event; bringing together 1,000 scientists, healthcare professionals, patient advocates and industry partners together at the 4th International Scientific Congress; running an awareness campaign that was used internationally; and launching a one-of-a-kind benchmarking report—as a testament to the value of SMA Europe’s effort and energy.
“In German, there is a saying that a rope consists of several strands. If you take just one strand alone, you can break it, but those strands together are really strong. I think SMA Europe’s capacity to bring together the strands is the great value it brings to the community.”
– Nicole
References
[1] SMA Europe: SMA Priority Setting [Internet]. Accessed 5 Mar 2024. https://www.sma-europe.eu/our-priority-setting-project
[2] SMA Europe: Adult Care [Internet]. Accessed 5 Mar 2024. https://odysma.sma-europe.eu/adult-care
[3] Miller N. Rare Odyssey. RARE Revolution Magazine. 2023; Spring: 15-17. Accessed 5 Mar 2024. https://editions.rarerevolutionmagazine.com/html5/reader/production/default.aspx?pubname=&edid=96d21e11-98ad-4cd1-9c24-0022245bef9d
This digital spotlight has been made possible with financial support from F. Hoffmann-La Roche Ltd. The content was developed in collaboration with SMA Europe and F. Hoffmann-La Roche Ltd. All opinions are those of the contributor. RARE Revolution Magazine retains all copyright.
Date of preparation: April 2024 – M-GB-00016463
