Europe-wide initiative identifies top 10 SMA research priorities

Muscle regeneration, the benefits of a specialized diet, physiotherapy, and assistive technologies are among top priorities for spinal muscular atrophy (SMA) research identified by patients, caregivers, and healthcare professionals from 22 countries in Europe.

The top 10 priorities, developed through a series of surveys and a workshop, were published in a study, “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.

“These insights highlight the need both for continued research funding and for research priorities to take into account the priorities expressed by people living with SMA,” the researchers wrote.

SMA is marked by the progressive loss of motor neurons, the specialized nerve cells that control movement, leading to SMA symptoms like muscle weakness, difficulty swallowing, and breathing problems.

While the development of disease-modifying therapies has transformed SMA care and patient outcomes, there are still unmet medical needs. “While academic and industry agendas have yielded breakthroughs, incorporating patient and caregiver perspectives can further shape the fundamental and clinical research landscape,” the researchers wrote.

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SMA Europe, with help from the James Lind Alliance, conducted a Europe-wide initiative to identify and share community-driven research priorities, with the aim of ensuring that resources are directed toward areas with the greatest potential benefit for the SMA community.

The first phase consisted of an open survey to identify scientific uncertainties that would define topics for research. A total of 927 people from 22 European countries participated; 487 completed the survey. Respondents were people with SMA (45%); caregivers (36%), which the investigators said “represented the broad spectrum of SMA disease severity and clinical presentations;” and healthcare and social care professionals (19%).

The responses yielded 52 summary questions across biomedical, psychosocial, quality-of-life, clinical, and care-related clusters. A second survey, completed by 582 participants, narrowed these to 24 questions, which were discussed during an in-person consensus workshop.

A balanced group of 24 participants then used a structured consensus process, intended to promote equitable participation and avoid groupthink, to agree on the final top 10 priorities.

The research priorities covered a broad range of areas, from motor neuron and muscle regeneration and the potential body-wide effects of SMA to the possible benefits of dietary supplements, physiotherapy, and assistive technologies.

The priorities “reflect a community-informed, multidimensional view of SMA, encompassing biomedical, medical, rehabilitative, and technological needs that often fall outside the scope of conventional research,” the researchers wrote.

The second phase aimed to translate the priorities into more specific research areas and potential pathways for future studies. Researchers held a transdisciplinary workshop during the 4th International Scientific Congress on SMA in Ghent, Belgium, in 2024 for healthcare professionals, patient advocates, academic researchers, and funders.

Eight broad clusters emerged: regeneration of the neuromuscular system, biomarkers and disease progression tracking, metabolism and diet, personalized physiotherapy, multisystem impact, musculoskeletal and orthopedic management, fatigue, and assistive technology and innovation.

“For researchers, the community-identified research priorities provide a constructive framework for collaboration: an opportunity to consider how ongoing and future work might align with the areas the community has identified as most pressing,” the investigators wrote.

The project’s final phase focused on communicating the research priorities to the wider SMA community, researchers, funders, and decision-makers. SMA Europe ran a social media campaign across its social media accounts and newsletters, along with national patient organizations across Europe, and through targeted outreach to the community, scientists, and funders.

The authors emphasized that the identified priorities represent a starting point rather than an endpoint. “As children and adults live longer with improved motor function, different challenges will become more salient. Ongoing, structured mechanisms to revisit and update priorities will be essential,” the investigators wrote.

“The needs of people living with SMA are not only to extend life, but to enhance its quality,” they wrote. “For funders, the outcomes of this project offers a clear, community-driven rationale for prioritising investments, helping ensure that resources are directed toward research with the greatest potential to address real-world needs.”