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

Topic:

Clinical Trials

Poster Number: P197

Author(s):

Michaela Walker, MPH, CCRP, University of Kansas Medical Center, Russell Butterfield, MD, PhD, Univeristy of Utah, Brianna Brun, MD, University of Rochester, Rebecca Clay, B.S., CCRP, University of Kansas Medical Center, John Day, MD, PhD, Stanford School of Medicine, Katy deValle, PT, PhD, Murdoch Children's Research Institute, Katy Eichinger, PT, PhD, University of Rochester, Seth Friedman, PhD, Seattle Children's Hospital, Maya Hatch, PhD, University of California Irvine, Jianghua He, PhD, University of Kansas Medical Center, Natalie Katz, MD, PhD, Duke University, Bohan Lee, MD, University of Rochester, Doris Leung, MD, PhD, Kennedy Krieger Institute, Leann Lewis, MSc, CCRP, University of Rochester, Katherine Mathews, MD, University of Iowa, Carolina Tesi Rocha, MD, Stanford University, Rabi Tawil, MD, University of Rochester, Ian Woodcock, MBBS, PhD, MSc, Murdoch Children's Research Institute, Jeffrey Statland, MD, University of Kansas Medical Center

The primary goal of this proposal is to hasten therapeutic development by validating outcomes and refining trial strategies for pediatric-onset FSHD, which is defined as onset of symptoms before the age of 18 years and includes approximately one fifth to a third of individuals with FSHD. Cross sectional studies have suggested an association between earlier onset and greater clinical severity. Having 1-3 D4Z4 repeats is also associated with extra-muscular manifestations in pediatric FSHD. Prospective studies in early-onset FSHD have been limited by small numbers of sites and low ability to recruit and follow patients. This population is of interest because treating FSHD in a more rapidly progressing population may allow faster detection of treatment effect. While the adult FSHD field has coalesced around outcome measures (FSHD-COM, RWS, and qMRI), academic and industry experts agree there is an urgent need for data in pediatric FSHD. A prospective observational study will enroll 80 symptomatic, genetically confirmed pediatric FSHD participants (at least half meeting criteria for early-onset: facial weakness before 5, shoulder weakness before 10) over 24 months. Visits will occur every 6 months and collect history, exam, patient reported outcomes, functional motor performance (FSHD COM Peds, strength, and respiratory parameters), reachable workspace, and whole-body MRI. We hypothesize that baseline features in qMRI will predict 24-month changes in FSHD-COM Peds or RWS. Funding has been provided by the NINDS, and enrollment is anticipated to begin in the second half of 2025. FSHD severity and its impact on function are often worse in children, and measurement tools must account for the effects of growth and maturation on motor function. Validating measures in children with FSHD will improve trial readiness. Outcomes that can span the lifetime would offer advantages for clinical trials, enable longitudinal studies, and support effective health monitoring in integrated lifespan care models.