Objective:

1) To score upper extremity muscular function in patients with facioscapulohumeral muscular dystrophy (FSHD) using an established automated joint tracking system (ACTIVE-Workspace Volume, WSV) comparing this to the popular Reachable Workspace (RWS) as an outcome measure in FSHD patients. 2) To develop a mobile body track system (ACTIVE-FSHD) able to capture joint range of motion xyz trajectories in this population. 

Background:

ACTIVE-WSV has been validated in Duchenne muscular dystrophy as a marker of upper extremity function but has not been directly compared to a proprietary assessment currently used in FSHD trials (RWS). Validation of ACTIVE-WSV in FSHD patients as a biomarker of disease progression could facilitate FSHD research.

Design/Methods:

We are performing a longitudinal pilot study with 10 FSHD patients and 5 controls assessed at baseline, 3, 6, 9, and 12 months using ACTIVE-WSV, RWS, and a tailored ACTIVE-FSHD platform. The system employs a Microsoft Azure Kinect camera and development kit programmed to capture movement of the following joints: Head, neck, chest, pelvis, clavicles, shoulders, elbows and wrists. Patients are seated 7 feet from the camera and asked to perform prespecified motor tasks during which joint movements are captured and tracked.

Results:

We will report the results of ACTIVE-WSV scoring compared to RWS and will correlate these measures to clinical status (Ricci and Lamperti scores, FSHD-RODS, MMT) and imaging by muscle MRI. We hypothesize that ACTIVE-WSV will show improved test-retest reliability and reduced ceiling effects compared to RWS by assessing maximal function and allowing movements of the trunk and core. Ongoing development of xyz trajectory analysis using developing ACTIVE-FSHD to characterize specific compensatory motor patterns during tasks will be presented.

Conclusions:

ACTIVE-WSV with automated analysis is a promising mobile platform for longitudinal assessment of disease progression in FSHD. ACTIVE-FSHD may allow analyses of specific motor patterns relevant to implementation of future FSHD clinical trials.