Motor Outcomes to Validate Evaluations in Facioscapulohumeral muscular dystrophy (MOVE FSHD): Preliminary Baseline Characteristics


Clinical Trials

Poster Number: 130


Michaela Walker, MPH, CCRP, University of Kansas Medical Center

The MOVE FSHD study aims to determine the predictive value of clinical and motor assessments, patient-reported outcomes, imaging, and tissue biomarkers on disease progression in FSHD. To date, most FSHD studies evaluating risk of functional outcomes or relationship between genetics and age at onset have been cross sectional – few evaluated longitudinal risk of functional motor outcomes, or risk factors for FSHD. A more comprehensive study tying motor functional performance, biomarkers, or changes in performance to life-modifying outcomes would be important not only for improving patient care, but to understand what kind of change would be meaningful for clinical trials. Evaluate 450 FSHD participants over three years with 200 participating in an MRI and muscle biopsy sub-study to validate FSHD evaluations. Annual visits collect FSHD history, physical examination, patient reported outcomes, strength, timed functional tasks, and respiratory parameters. Sub-study participants will have additional biomarkers collected, including whole-body MRI at Baseline and 12-month visits with muscle biopsy occurring at Baseline and (n=40) at 4-month visits. The MOVE FSHD study has over 215 participants across 12 US sites who have completed their Baseline visit, more than 50 have returned for annual follow-up visits and sites have also begun enrolling MOVE+ sub-study participants. Our cohort is predominantly non-Hispanic white with 58% being male, 88% FSHD Type 1, and 92% are ambulatory. We currently have 12 individuals enrolled under the age of 18. Lastly, 50 of our previous 161 US participants from the ReSolve FSHD study have enrolled in the MOVE study with the remainder expected to roll-over within the next 1-2 years. MOVE FSHD addresses barriers to clinical trials by validating motor, clinical, and patient reported outcomes, as well as potential biomarkers. The data from MOVE FSHD can also improve our understanding of FSHD and directly impact patient care.