SMA community puts its priorities at the heart of future research

9 October 2026

SMA Europe-led study identifies the research questions that matter most to people living with SMA, families and healthcare professionals across Europe.

1 October 2026

SUMMARY: SMA Europe is excited to share the publication of “From questions to impact in spinal muscular atrophy – identifying community-driven research priorities through a multi-stakeholder European initiative” in the Orphanet Journal of Rare Diseases.

The study presents the first Europe-wide, patient-led initiative to identify the most relevant unanswered questions in spinal muscular atrophy (SMA), placing the experiences and priorities of people living with SMA, their families and healthcare professionals at the center of the process.

Advances in treatment have transformed the outlook for people living with SMA. But SMA is not cured, and significant unmet needs remain. As the condition and its treatment landscape continue to evolve, an important question is therefore: what should SMA research focus on next?

To help answer this, SMA Europe led a Priority Setting Partnership using the James Lind Alliance methodology. Over 900 participants from 22 countries took part. Together, they generated over 1’300 questions, which were reviewed, consolidated and prioritised through multilingual surveys and a final consensus workshop, resulting in a community-defined “Top 10” research priorities” for SMA.

The priorities show the breadth of questions that matter to the SMA community. They include fundamental and biomedical research into areas such as nerve and muscle regeneration and biomarkers, alongside questions relating to nutrition and metabolism, personalised physiotherapy, the wider impact of SMA on the body, fatigue, orthopaedic care and assistive technologies.

Peter Claus, co-author of the article and Professor at the Hannover Medical School, emphasizes:

“Defining research priorities is an important step in the field of both pre-clinical and clinical SMA research: Although therapies are available, there is still a substantial need for further research. The prioritization clearly outlines this demand.”

But the initiative did not stop with identifying a “Top 10”. In a second phase, researchers, clinicians, patient representatives and funders came together in a transdisciplinary workshop to translate the community priorities into thematic research clusters, helping bridge lived experience with future research programmes and investment. A third phase focused on sharing the results with the community, researchers and funders and encouraging action around the priorities

The finding now provides a community-informed reference point for future SMA research. SMA Europe is already using the priorities to help shape its own research funding and scientific activities and is encouraging researchers and funders to consider them when developing future programmes.

As Nicole Gusset, CEO of SMA Europe and lead author states:

“When treatments transform a condition, the needs of the community do not disappear, but they change, and so do the questions that research needs to answer. People living with SMA, their families and their health care professionals have a unique perspective on what those questions are. This initiative gives us a clear picture of what the community wants research to address next. Some of these priorities are already part of active scientific research, while others need greater attention. Our hope is that researchers and funders will use these priorities as a starting point for dialogue and collaboration, so that future research not only advances science, but also addresses the questions that can make a meaningful difference to people living with SMA.”

Read the full open-access article:

From questions to impact in spinal muscular atrophy – identifying community-driven research priorities through a multi-stakeholder European initiative, Orphanet Journal of Rare Diseases.