Motor Outcomes to Validate Evaluations in Facioscapulohumeral muscular dystrophy (MOVE FSHD): Preliminary Baseline Characteristics
Michaela Walker1, Russell Butterfield2, John Day3, Katy Eichinger4, Bakri Elsheikh5, Seth Friedman6, Angela Genge7, Kiley Higgs1, Nicholas Johnson8, Peter Jones9, Doris Leung10, Leann Lewis4, Hanns Lochmuller11, Erin O'Ferrall12, William Martens4, Dennis Shaw6, Perry Shieh13, S Subramony14, Jaya Trivedi15, Leo Wang16, Matthew Wicklund17, Alrabi Tawil4, Jeffrey Statland1
1University of Kansas Medical Center, 2University of Utah, 3Stanford University School of Medicine, 4University of Rochester Medical Center, 5The Ohio State University Wexner Medical Center, 6Seattle Children's Hospital, 7Mcgill University, 8Virginia Commonwealth University, 9University of Nevada Reno, 10Kennedy Krieger Institute, 11Children's Hospital of Eastern Ontario & Ottawa Hospital Research Institute, 12McGill University & Montreal Neurological Institute, 13University of California Los Angeles, 14University of Florida, 15University of Texas Southwestern Medical Center, 16University of Washington, 17University of Colorado
Objective:
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.
Background:
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.
Design/Methods:
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.
Results:
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.
Conclusions:
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.