Motor Outcomes to Validate Evaluations in Facioscapulohumeral muscular dystrophy (MOVE FSHD): Interim Baseline Data and Potential Predictors for FSHD

Topic:

Clinical Trials

Poster Number: T350

Author(s):

Michaela Walker, MPH, CCRP, University of Kansas Medical Center, Channa Hewamadduma, MBBS, FRCP, FRCPE, MSc, PhD, Sheffield Teaching Hospitals, Russell Butterfield, MD, PhD, University of Utah, John Day, MD, PhD, Stanford University Medical Center, Stacy Dixon, MD, PhD, University of Colorado, Katy Eichinger, PT, PhD, University of Rochester, Bakri Elsheikh, MD, The Ohio State University, Seth Friedman, PhD, Seattle Children's Hospital, Angela Genge, MD, McGill University, Nicholas Johnson, MD, Virginia Commonwealth University, Peter Jones, PhD, University of Nevada, Doris Leung, MD, PhD, Kennedy Krieger Institute, Leann Lewis, MS, University of Rochester Medical Center, Hanns Lochmuller, MD, Children's Hospital of Eastern Ontario & Ottawa Hospital Research Institute, Erin O'Ferrall, MD, Mcgill University & Montreal Neurological Institute, Bill Martens, University of Rochester Medical Center, Dennis Shaw, MD, PhD, Seattle Children's Hospital, Perry Shieh, MD, PhD, University of California Los Angeles, S H Subramony, M.D., Univsersity of Florida, Fixel Center for Neurological Disorders, Jaya Trivedi, MD, University of Texas Southwestern, Leo Wang, MD, PhD, University of Washington, Matthew Wicklund, MD, University of Texas San Antonio, Rabi Tawil, MD, University of Rochester Medical Center, Jeffrey Statland, MD, 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. 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. The MOVE FSHD study will evaluate 450 FSHD participants over three years with 200 participating in an MRI and muscle biopsy sub-study to validate FSHD evaluations and biomarkers. Annual 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 and functional workspace at each visit, whole-body MRI at Baseline and 12-months, and muscle biopsy occurring at Baseline and (n=40) at 4-months. The MOVE FSHD study has 285 participants enrolled across 14 international sites. Over 215 annual follow-up visits have been completed, ~20 are enrolled in the MOVE+ sub-study, and 20 participants enrolled under the age of 18. MOVE FSHD participants span the full clinical severity scale with more than a third of participants having mild to moderate weakness in their lower extremities. TFTs, such as the 10-meter walk run (10mwr) or timed up and go (TUG) appear to correlate well with disease severity (<0.6). Also, the 10mwr has shown a change from Baseline in 12-24-months and may predict a shift in other TFTs. Over 50 participants reported using an assistive device at Baseline with more than 35 reporting a use of a new device within 12-24-months. The MOVE FSHD study can help to improve our understanding of FSHD, directly impact patient care, and identify outcomes and biomarkers that show and may be predictive of a change in FSHD. Finally, the 10mwr appears to detect a change from Baseline and may predict a shift in other outcomes measures.