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Anabel FerrerasJun 26, 20242 min read

Advancing SMA Treatment: How Real-World Evidence Supports Regulatory Decisions

Spinal Muscular Atrophy (SMA) is a rare and debilitating neuromuscular disease affecting approximately 1 in 6,000 to 14,300 live births. It is the leading genetic cause of mortality in infants and children, impacting daily activities such as breathing, eating, hugging, grabbing, nodding, sitting, and walking. Currently, three disease-modifying therapies (DMTs) are authorized for the treatment of SMA: Zolgensma (onasemnogene abeparvovec), Spinraza (nusinersen), and Evrysdi (risdiplam).

Recently, a high-impact study leveraging real-world data from a patient registry has been made publicly available in the European Medicines Agency’s (EMA) online catalog. This non-interventional cohort study, a collaboration between Aetion, the EMA, and the TREAT-NMD network was conducted across multiple European countries using six registries federated in the TREAT-NMD network to better understand the natural history of SMA, the evolution of diagnosis methods, and the usage patterns and effectiveness of DMTs. Here, we discuss how this study foregrounds both the adaptability and robustness of registry data in rare diseases and the precedent it sets for future research approaches. 

While this disease is rare, combining multiple registries allowed for the inclusion of 2,188 patients from Belgium, Spain, Switzerland, the UK, Ireland, the Czech Republic, Slovakia, Germany, Austria, and Sweden, creating a comprehensive analytic cohort to assess various aspects of SMA. The findings provided additional information on the varying trajectories of SMA progression and patient responses to DMTs, emphasizing the value of capturing long-term data on adverse events and adaptability of these registries to evolving therapeutic landscapes. With robust data, real-world evidence (RWE) can complement and, in some unique cases, replace traditional clinical trials, especially in rare disease research where trials may not be feasible.

Study findings have been presented at the 12th European Conference on Rare Diseases and Orphan Products in May 2024 and will be presented at the upcoming 40th International Conference for Pharmacoepidemiology in August 2024 and the 29th Annual Congress of the World Muscle Society in Oct 2024, and the SMA Europe association has underscored their significance in regulatory and rare disease communities. As Aetion and EMA continue to explore the potential of real-world data (RWD), this study exemplifies how rigorous, well-conducted RWD analyses can support advancements in patient care and regulatory science, ultimately driving improved outcomes for those living with rare conditions like SMA.

To learn more about this impactful study and how Aetion can support your regulatory and real-world evidence needs, talk to an Aetion expert today.


This blog post expresses the opinion of the authors of the blog post, and may not be understood or quoted as being made on behalf of or reflecting the position of the European Medicines Agency or one of its committees or working parties.