SMA Europe announces the awardees and projects shortlisted through its call for research no.12
SMA Europe, the European umbrella for national patient organisations for spinal muscular atrophy (SMA), is proud to announce that five scientific projects have been selected for funding through its “12th Call for Research proposals”.
Research in SMA is vital. SMA Europe is unique in supporting cutting-edge scientific research on all aspects of SMA. No European organisation launches a research call focusing exclusively on spinal muscular atrophy.
Launched every two years, the Call for Research aims to support research proposals that address the needs of people living with SMA and demonstrate a clear pathway to impacting those in the short or longer term. The projects are evaluated by SMA Europe’s Scientific Advisory Board, which consists of neuroscientists and neurologists with specialised expertise in SMA research, along with external SMA expert reviewers. Starting with the 12th edition, a Community Review Panel (composed of expert patients or caregivers with a strong background in research and/or patient advocacy) has been established to further incorporate patients’ priorities and needs into the proposal selection process. The projects selected through the 12th Call cover various aspects of the condition and its biology, to enhance our understanding of its pathophysiology and develop new therapeutic approaches for the future.
Dr Nicole Gusset, CEO and President of SMA Europe states:
“SMA Europe is thrilled to announce awardees of our 12th Call for Research. It is inspiring to see such extraordinary researchers pushing the boundaries of scientific discovery. Even with the treatments now available, fundamental research remains essential to our SMA community. Only by continuously supporting innovative approaches can we pave the way for breakthroughs that may one day further transform the landscape for all those living with SMA.”
Selected projects
Dr. Gabriella Viero (National Research Council, Trento, Italy) and her team address the unmet need for new biomarkers to track disease progression and treatment responses accurately. Building on their previous discovery of how SMN loss affects protein translation in SMA models, the team will now validate new biomarkers in samples from SMA patients treated with approved drugs.
Dr. Nathalie Didier (INSERM – Institut national de la santé et de la recherche médicale, France) and her team have previously showed that the SMN protein is essential for maintaining the pool of muscle stem cells, which are crucial for muscle tissue and its ability to repair itself. With this funding, Dr. Didier, in collaboration with Dr. Smeriglio, will investigate whether the approved disease-modifying treatments for SMA can preserve these muscle stem cells and further explore their connection with motor neurons.
While the primary symptoms of SMA involve the neuromuscular system, recent years have seen the characterization of new symptoms affecting various bodily functions. Among these, Prof. Dr. Simon Parson (University of Aberdeen, UK) is focusing on defects in blood vessels observed across multiple systems, including the cardiovascular, gastrointestinal, and renal systems. In this funded project, Prof. Parson and his team will investigate whether these blood vessel defects may cause or exacerbate patient symptoms, with the aim of guiding the future development of therapies.
Another understudied aspect of SMA is being investigated by Dr. Sorana Ciura (Institut Imagine, Paris, France), whose project will explore whether calcium pathways could be targeted for SMA future therapies. To achieve this, the team will examine the connection between calcium levels, mitochondria (the cell’s energy factories), and SMA symptoms, and will test the effects of calcium-modulating drugs on a fish model for SMA and human cells.
One of the earliest symptoms in the pathogenesis of SMA is defects at the neuromuscular junction, the region where nerves and muscles connect. To enhance understanding of this aspect, Dr. Morgan Gazzola (I-Stem – Institute for Stem cell Therapy and Exploration of Monogenic diseases, France) and his team have differentiated human stem cells into complex mini neuromuscular organs (called neuromuscular organoids), which will be used to investigate how the loss of SMN affects the development of the neuromuscular junction.
Additional information:
SMA Europe’s Call for Research: Call for Research proposals
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