This technology, the SMA EFFORT, is a disease-specific patient-reported outcome measure (PROM) that quantifies perceived physical fatigability (PPF) in individuals with spinal muscular atrophy (SMA), enabling more sensitive assessment of treatment effects and disease impact from the patient’s perspective.
Current methods for assessing fatigability in SMA primarily rely on performance-based in-clinic assessments. While informative, these tools do not reflect the subjective experience of individuals living with SMA. Current patient-reported outcome measures (PROMs) meant to assess the impact of fatigue conflate fatigue with fatigability and overlook activity intensity and duration. Furthermore, generic PROMs repurposed from other conditions cannot adequately capture treatment-related changes. A PROM tailored to SMA that links perceived physical fatigability ratings to real-world activities is needed to improve disease monitoring and therapeutic evaluation.
This technology, termed the SMA EFFORT, is a novel, disease-specific patient-reported outcome measure (PROM) designed to assess perceived physical fatigability in individuals with spinal muscular atrophy (SMA) across the phenotypic spectrum. The tool links self-reported fatigability ratings to standardized activities of varying intensity and duration, including domains such as activities of daily living, mobility, postural control, and exercise/recreation. In a cross-sectional international study of 118 individuals with SMA, the scale demonstrated broad score distributions, differentiated between functional subgroups (e.g., non-sitters vs. sitters vs. walkers), and showed associations with respiratory support use and energy levels. Initial psychometric evaluations support its relevance and feasibility in quantifying this experience in SMA.
This technology has been validated in a study of 118 individuals with SMA.
Jacqueline Montes, PT, EdD, NCS
Rafael Rodriguez-Torres, PT, DPT, PCS
Cara H. Kanner, PT, DPT, PCS
IR CU26017
Licensing Contact: Dovina Qu