Motor Outcomes to Validate Evaluations in Facioscapulohumeral Muscular Dystrophy (MOVE FSHD): Interim Baseline Data and Potential Predictors for FSHD
Michaela Walker1, Channa Hewamadduma2, Russell Butterfield3, John Day4, Stacy Dixon5, Katy Eichinger6, Bakri Elsheikh7, SETH FRIEDMAN8, Angela Genge9, Nicholas Johnson10, Doris Leung11, Leann Lewis12, Hanns Lochmuller13, Erin O'Ferrall14, William Martens6, Dennis Shaw8, Perry Shieh15, S Subramony16, Jaya Trivedi17, Leo Wang18, Alrabi Tawil12, Jeffrey Statland1
1University of Kansas Medical Center, 2Royal Hallamshire Hospital, 3University of Utah, 4Stanford University School of Medicine, 5University of Colorado, 6University of Rochester, 7The Ohio State University Wexner Medical Center, 8Seattle Children's Hospital, 9Mcgill University, 10Virginia Commonwealth University, 11Kennedy Krieger Institute, 12University of Rochester Medical Center, 13Ottawa Hospital Research Institute, 14McGill University & Montreal Neurological Institute, 15UCLA, 16University of Florida, 17UT Southwestern Medical Center, 18University of Washington
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:
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 study tying changes in performance or biomarkers to life-modifying outcomes (i.e., using an assistive device) is important not only for improving patient care, but also to understand what kind of change would be meaningful for clinical trials.
Design/Methods:
The MOVE FSHD study will evaluate 450 FSHD participants over 24-months with 200 participating in an MRI and muscle biopsy sub-study to validate FSHD evaluations and biomarkers. Visits collect FSHD history, physical examination, patient reported outcomes, strength, timed functional tests (TFTs), and spirometry. Sub-study participants have additional biomarkers collected, including reachable workspace at each visit, whole-body MRI at Baseline and 12-months, and an optional muscle biopsy occurring at Baseline and (n=40) at 4-months.
Results:
The MOVE FSHD study has enrolled >360 participants across 18 international sites with more than 175 12-month visits and 100 24-month visits completed, 70 are enrolled in the MOVE+ sub-study, ~20 participants are non-ambulatory and ~20 enrolled are <18. TFTs, such as the 10-meter walk run (10mwr) and Timed Up and Go (TUG), correlate well with disease severity (>0.6), change from Baseline in 12-24-months and may predict a shift in other TFTs. The current abilities patient reported outcome also has a strong correlation to disease severity and strength (>.8) and strength (>.7), as well as a moderate correlation to function (>.5).
Conclusions:
The MOVE FSHD study can improve our understanding of FSHD, impact direct patient care, refine inclusion/exclusion criteria for clinical trials, as well as identify outcomes and biomarkers for FSHD.
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