Spinal Muscular Atrophy: The Patient Perspective and the Road Ahead

Angela Lek, PhD, Chief Research Officer, Muscular Dystrophy Association (MDA), describes how the introduction of disease- modifying therapies for spinal muscular atrophy (SMA) has pushed the boundaries of health outcomes and developmental milestones. The landscape for treating SMA has been completely transformed over the last decade, with multiple disease-modifying therapies that address the underlying cause of SMA. Indeed, it is one of the great success stories in neuromuscular medicine, according to Dr. Lek. The impact of these targeted and gene therapies on families has been extraordinary. Children with SMA are attaining milestones not dreamed of a decade ago, and even participating in sports. Furthermore, there is still room to improve outcomes for people with SMA. In 2026, successful treatment of SMA is increasingly measured in broad real-world outcomes, such as independence and even employment. For example, preserved hand function for one patient with SMA may enable expansive use of a computer, making employment a more-attainable goal. For another individual, success may be defined as having enough energy to function outside of the home. These types of functional improvements are not always captured by measurement tools such as the Hammersmith scale. As a result, patient-reported outcomes are increasingly important, according to Dr. Lek. Contributing to this effort, the MDA is developing a robust patient registry that collects real-world outcomes. Through this patient-centered platform (called MOVR, for neuroMuscular ObserVational Research), individuals with one of several disorders (including SMA) input information from their individual care journey. The Association hopes that the registry will produce high-quality, longitudinal data that can shape long-term research priorities and care. CHAPTERS Introduction 00:00 Evolving SMA Landscape 00:49 Choosing Treatment 4:33 Importance on Newborn Screening, Early Diagnosis, and Specialized Care 6:18 Functional Outcome Tools 8:22 SMA Patient Registry 10:15 Unmet Needs 12:41 Ongoing Research 14:46