Evaluating the changing landscape of SMA using the annual Cure SMA community update survey



Poster Number: 207


Lisa Belter, MPH, Cure SMA, Kendra Lawrence, Cure SMA, Lauren Eisenman, Cure SMA, Mary Curry, ND, Cure SMA, Mary Schroth, Cure SMA

Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease that, in the most severe cases and when left untreated, leads to death within the first two years of life. In the last five years, however, there have been therapeutic advances that have compensated for the deficiency in survival motor neuron (SMN) protein, which have led to development of new motor functions and increased survival._x000D_
Objective: To describe longitudinal changes in SMA severity and treatment experience by looking at specific outcomes of motor function, hospitalizations, and comorbidities over the past six years using the Cure SMA community survey. Participants will be included in the analysis if they report a diagnosis of SMA type 0, type 1, or an early diagnosis of SMA by prenatal and/or newborn screening that is otherwise undefined. Those with non-5Q SMA or an unknown/missing SMA type will be excluded. Non-US residents will also be excluded._x000D_
Results: The final sample includes 607 unique survey participants. Of these, 341 individuals completed the survey once and 266 participants provided survey responses for two or more years since survey initiation in 2017. In total, we have collected 1047 survey responses from affected individuals with severe SMA or from their family members or caregivers. Motor function, hospitalizations, and comorbidities will be described for all survey participants. Among individuals who contributed to two or more years of survey responses, changes in outcomes over time will be presented. Motor function and hospitalizations will be evaluated as a function of SMA severity and time on treatment. Health insurance coverage and access will also be evaluated to determine how insurance coverage (or lack thereof) can impact patient health outcomes._x000D_
Conclusions: This analysis will help describe the longitudinal differences in the SMA disease trajectory by treatment in order to educate and manage expectations for patients, families, clinicians and researchers._x000D_
Funding: Funding for this research was provided by the 2022 Cure SMA Industry Collaboration. Members include Cure SMA, Biogen, Genentech/Roche Pharmaceuticals, Scholar Rock, Novartis Gene Therapies, Biohaven Pharmaceuticals, Epirium Bio, and SMA Europe.