From questions to impact in spinal muscular atrophy - identifying community-driven research priorities through a multi-stakeholder European initiative

Abstract

Abstract Background Advances in medicines have transformed the outlook for people living with spinal muscular atrophy (SMA), yet many needs remain unmet. As the scientific and clinical environment evolves, aligning research priorities with the lived experience of patients is increasingly recognised as essential to ensure that investment delivers meaningful, community-relevant impact. While academic and industry agendas have yielded breakthroughs, incorporating patient and caregiver perspectives can further shape the fundamental and clinical research landscape. This project aimed to (1) identify the “Top 10” unanswered research questions in SMA from the perspectives of patients, caregivers, and healthcare professionals; (2) engage the wider research and clinical community to further refine these priorities through expert dialogue; and (3) disseminate the outcomes to raise awareness, establish a feedback loop with the community, and stimulate research and funding activity. More broadly, it aimed to illustrate how participatory approaches can inform rare disease research agendas. SMA Europe led a multinational Priority Setting Partnership using the James Lind Alliance approach. Over 900 participants from 22 countries submitted research priorities, which were consolidated and ranked through surveys and a final consensus workshop to produce a community-defined “Top 10”. In subsequent phases, a transdisciplinary expert workshop was convened to identify research areas with the highest potential impact and a dissemination campaign was launched, promoting uptake among researchers and funders. Results The “Top 10” priorities grouped into eight research clusters, ranked by importance: 1. Regeneration of neuromuscular system; 2. Biomarkers; 3. Metabolism and diet; 4. (Personalised) Physiotherapy; 5. Understanding SMA impact on pathways, cells and tissues; 6. Bones and joints; 7. Finding solutions to manage fatigue; 8. Innovative technology. While some align with current research, others highlight underexplored areas central to quality of life. The participatory process demonstrated the role of patient organisations as conveners and co-creators in shaping research strategy. Conclusions This initiative represents the first European-wide, patient-led initiative to define research priorities in SMA and reflects a growing shift toward inclusive governance in rare disease research, beyond Europe alone. By grounding biomedical innovation in community-defined priorities, it illustrates a replicable model for participatory research and transdisciplinary collaboration. SMA Europe is using the identified priorities to guide its research strategy and encourages researchers and funders to consider them in future initiatives.