2026 American Academy of Neurology Abstract Website

Channa Hewamadduma¹, Michaela Walker², jonathan Street³, Natalie Katz⁴, Kate Eichinger⁵, Filipe Di Pace⁶, sandhya sasidharan², linda lowes⁷, Cristiane Ammoreno⁶, Jeffrey Statland²
¹Department of Neurosciences, Sheffield Institute for Translational Neurosciences (SITRAN), University of Sheffield, ²University of Kansas Medical Center, ³Academic Neuromuscular Unit, Sheffield Teaching Hospitals NHS Foundation Trust, ⁴Duke University, ⁵University of Rochester, ⁶Department of Neurology, Universidade de São Paulo, ⁷Sarepta

Objective:

To assess the utility of CAS as a novel patient reported outcome measure

Background:

Patient reported outcome measures (PROM) are important to measure both the impact of FSHD on the function and quality of life. If the PROM is also sensitive to change over time then its crucial for planning day-day care as well as recording patient related experiences in both natural history studies and clinical trials.

Design/Methods:

CAS is a patient reported outcome measure used in two large multi-national natural history studies in FSHD, RESOLVE and MOVE. It has six items including functions of face, arms, hands, mobility, chair and bed transfers with a maximum score of 25 points indicating severe disability. Here we report the baseline and longitudinal results for CAS from MOVE study. Various items of validation and several psychometric analysis were carried out. Baseline characteristics and longitudinal changes were analysed.

Results:

Baseline CAS from 437 FSHD patients was available. 209 were female with an average age of 48 yrs (range 5-83yr) and average FCS scale 7.32 (SD±4.05). CAS positively correlated well with FCS (p=0.79, p<0.001), MMT sum score (p=0.74, p<0.001), negatively with Upper extremity Functional index (UEFI) (p= -0.78, p<0.001). CAS also had excellent reliability in both in-person and remote completions (ICC day 1 vs day 14 ICC = 0.979 (n = 15). At 24 months, the percentage change from baseline was 9.8%. Further change over time trajectories and subgroup analysis at 6-12 monthly intervals will be presented.

Conclusions:

We present CAS data from a large multi-center FSHD natural history study called MOVE. We propose that CAS is a valid, and a reliable patient reported outcome measure in persons with FSHD. To be able to demonstrate change over time is paramount to clinical trials and in clinic monitoring and to plan interventions.