A Smartphone Video-Based Digital Fundtional Outcome Measure Sensitive to FSHD Progression

Investigators: Dr. Scott Uhlrich, Russell J Butterfield MD PhD

Category: Research - Clinical

A major challenge in developing effective treatments for facioscapulohumeral muscular dystrophy (FSHD) is the lack of sensitive ways to measure how a person’s movement and daily function change over time or in response to treatment. Clinical trials rely on these functional outcome measures to determine whether a therapy is effective, and when these measures are not sensitive enough, promising treatments may fail despite real benefit. To address this problem, we aim to develop a new, more sensitive functional outcome measure for FSHD using smartphone video to precisely track whole-body movement. We have developed software called OpenCap that uses multiple smartphone videos to measure three dimensional movement during common upper- and lower-body activities of daily living. Using OpenCap, we have already collected detailed movement data from 430 individuals with and without neuromuscular diseases, including 70 individuals with FSHD. Using this dataset, we will create a composite FSHD-specific digital outcome measure that quantifies how much a person’s movement patterns differ from those of individuals without FSHD across multiple activities. Furthermore, we will use our new single-camera OpenCap system to create a lower burden outcome assessment that can be measured regularly at home using a single smartphone. This at-home approach could provide a less variable, more realistic view of day to-day function while reducing the need for clinic visits. To evaluate our new single- and multi camera digital outcome measure, we will test whether they are more sensitive to changes over time due to disease progression than current clinical outcomes. This project will deliver a validated smartphone-based tool for assessing function at home that can support decentralized clinical trials, reduce patient burden, and ultimately accelerate treatment development for FSHD.