Motor Outcomes to Validate Evaluations in Facioscapulohumeral muscular dystrophy (MOVE FSHD): Protocol for an observational study.

Topic:

Clinical Trials

Poster Number: 59

Author(s):

Michaela Walker, MPH, Kansas University Medical Center, Russell Butterfield, MD, The University of Utah, Kate Eichinger, PT, PhD, NCS, University of Rochester, Bakri Elsheikh, MD, Ohio State University College of Medicine, Anna Faino, PhD, Seattle Children's Hospital, Seth Friedman, PhD, Seattle Children's Hospital, Kiley Higgs, MS, Kansas University Medical Center, Nicholas Johnson, MD, Virginia Commonwealth University, Peter Jones, PhD, University of Nevada Reno, Doris Leung, MD, Kennedy Krieger Institute, Leann Lewis, MS, U of R School of Medicine and Dentistry Neurology, Williams Martens, University of Rochester, Dennis Shaw, MD, Seattle Children's Hospital, Perry Shieh, MD, University of California, Los Angeles, David Geffen School of Medicine, S H Subramony, MD, University of Florida College of Medicine, Jaya Trivedi, MD, University of Texas Southwestern, Leo Wang, MD, University of Washington, Matthew Wicklund, MD, University of Colorado, Rabi Tawil, MD, University of Rochester, Jeffrey Statland, MD, University of Kansas School of Medicine, ReSolve Investigators of the FSHD CTRN, University of Kansas Medical Center

OBJECTIVE: To determine the predictive value of simple motor assessments, neuroimaging and tissue biomarkers on milestones of disease progression (i.e., need for orthotics, ambulation aides, respiratory support, etc.) in FSHD.
BACKGROUND: FSHD is a dominantly inherited, slowly progressive muscular dystrophy with clinical variability between individuals with the same mutation, between generations, and even in a single individual from one side of the body to another. 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: Prospective observational study of 450 clinically affected and genetically confirmed FSHD participants over 3 years with 200 participating in a MRI and muscle biopsy sub-study. Visits will occur annually and collect FSHD history, physical exam, severity scores, patient reported outcomes, and functional motor performance (timed functional tasks, strength, and respiratory parameters); sub-study participants will have whole body MRI at Baseline and 12-Month visits, muscle biopsy at Baseline, and at 4-months (n=40).
RESULTS: MOVE FSHD study has over 100 participants across 12 United States sites who have completed their Baseline visit.
CONCLUSIONS: MOVE FSHD addresses the barriers to clinical trials in FSHD by helping to validate motor, clinical and patient reported outcomes, as well as potential biomarkers. This project is significant in that FSHD is a common muscular dystrophy and results can have a direct and immediate impact on patient care, on our understanding of FSHD, and on the design of clinical trials in FSHD.
FUNDING: Grants from FSHD Society, Friends of FSH Research, FSHD Canada, and Avidity Biosciences.
REFERNCE: Statland JM, Tawil R. Facioscapulohumeral Muscular Dystrophy. Continuum (Minneap Minn). 2016;22(6, Muscle and Neuromuscular Junction Disorders):1916-31. Epub 2016/12/07. doi: 10.1212/CON.0000000000000399. PubMed PMID: 27922500; PMCID: PMC5898965.