Motor Outcomes to Validate Evaluations in Pediatric FSHD (MOVE Peds): Baseline characteristics for the first ten participants enrolled

Topic:

Clinical Trials

Poster Number: 306 T

Author(s):

Ian Woodcock, MD, PhD, Murdoch Children’s Research Institute, Parkville, Victoria and The Royal Children’s Hospital, Michaela Walker, MPH, CCRP, Kansas University Medical Centre, Brianna Brun, MD, University of Rochester Medical Centre, Katy de Valle, PhD, The Royal Children's Hospital, Parkville, Kate Eichinger, PhD, University of Rochester Medical Centre, Seth Friedman, PhD, Seattle Children's Hospital, Maya Hatch, PhD, University of Rochester Medical Centre, Natalie Katz, MD, PhD, Duke University Medical Centre, Doris Leung, MD, PhD, Kennedy Krieger Institute, Baltimore, Maryland, USA , Jeffrey Statland, MD, University of Kansas Medical Center, Kansas City, Kansas, USA

OBJECTIVE: 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.
BACKGROUND: 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.
DESIGN/METHODS: 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.
RESULTS: Since recruitment began in June 2026, ten participants have been recruited across four sites in the USA and Australia with a further four sites expected to begin recruitment in the first half of 2026. Baseline characteristics including baseline severity scale, FSHD-COM Peds and RWS scores for this initial cohort will be presented.
CONCLUSIONS: 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. FUNDING: National Institute for Neurological Disorders and Stroke