In a recent paper titled, “Patient Reported Impact of Symptoms in Spinal Muscular Atrophy (PRISM-SMA)” Dr. Chad Heatwole and others describe a cross-sectional study of 359 adults with SMA using the International SMA Patient Registry. The goal of the study was to determine the frequency and relative importance of symptoms experienced by adults with spinal muscular atrophy (SMA) and to identify factors that are associated with a higher burden of disease in this population. This initial study was funded by Cure SMA.
Participants provided input regarding 20 symptomatic themes and 207 symptoms that potentially affect adults with SMA. Participants were asked about the relative importance of each symptom, and analysis was conducted to determine how age, sex, SMA type, education, mobility, and employment status relate to symptom prevalence.
Limitations with mobility or walking (98.6%) and the inability to do activities (98.6%) were the 2 themes with the highest prevalence in the study sample. Limitation with mobility or walking was the theme that was identified as having the greatest effect on the lives of adults with SMA. Employment status was associated with the prevalence of 4 of 20 themes and a reliance on an assistive device was associated with 7 of 20 themes. The prevalence of breathing difficulties, choking or swallowing difficulties, and communication difficulties differed among those with different SMA types.
Enhancing Our Understanding of SMA through Patient Reported Data
PRISM-SMA adds to available knowledge regarding the total symptomatic burden that adults with SMA face. This research highlights a large-scale, patient-centric approach to defining the complex disease burden associated with adult SMA and may prove useful in the future management of these patients, development and validation of disease-specific, patient-reported outcome measures, and the planning and implementation of future SMA therapeutics research.
Currently, there is no properly validated, disease-specific, observer-reported outcome measure for infants and children (under 8 years of age) with SMA. With Cure SMA grant funding, Dr. Heatwole and his team will develop and validate a reliable, responsive, and patient-meaningful observer-reported outcome measure for use in SMA clinical trials for this population. Once completed, this instrument will be used in SMA clinical trials and clinics to track meaningful response to treatment in SMA children under eight years of age.