Patient-reported outcome measure for perceived physical fatigability in spinal muscular atrophy

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.

Unmet Need: Sensitive assessment of perceived physical fatigability in spinal muscular atrophy (SMA)

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.

The Technology: SMA-specific PROM anchored to activity intensity and duration

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, which has translations in over 40 languages, 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.

Applications:

• Clinical trial endpoint for spinal muscular atrophy (SMA) therapies
• Longitudinal monitoring of disease progression
• Evaluation of patient responses to pharmacological therapies and rehabilitative interventions
• Integration into telehealth and remote patient monitoring platforms
• Academic research tool for neuromuscular disease outcomes

Advantages:

• SMA-specific patient-reported outcome measure (PROM) quantifying perceived physical fatigability
• Anchors responses to activity intensity and duration
• Differentiates across functional subgroups (e.g., non-sitters, sitters, walkers)
• Captures real-world experiences often missed by performance-only scales
• Supports evaluation of treatment effects from the patient perspective
• Validated in a diverse, international SMA cohort
• Is available in over 40 languages

Lead Inventors:

Montes Lab

Jacqueline Montes, PT, EdD, NCS

Rafael Rodriguez-Torres, PT, DPT, PCS

Cara H. Kanner, PT, DPT, EdD, PCS

Related Publications:

• Rodriguez-Torres R, Kanner CH, Gay EL, Uher D, Corbeil T, Coratti G, Young SD, Rohwer A, Lofra RM, McDermott MP, De Vivo DC, Glynn NW, Montes J. “Development of the SMA EFFORT: A new approach to characterize perceived physical fatigability in spinal muscular atrophy.” Journal of Neuromuscular Diseases. 2025;12(1):45 56.

Tech Ventures Reference:

• IR CU26017

• Licensing Contact: Dovina Qu