Study on Motor Function and Evaluation Methods in Children with Pediatric-Onset Facioscapulohumeral Muscular Dystrophy FSHD

What this Trial Is About

Researchers are conducting a two-year prospective study called MOVE Peds to improve clinical trial methods and validate motor and functional outcomes for children with pediatric-onset facioscapulohumeral muscular dystrophy FSHD. This study focuses on understanding disease severity and progression in younger patients, especially those with fewer D4Z4 repeats, which are linked to more severe symptoms and complications. Early-onset FSHD is important for developing new therapies because it may cause more severe symptoms than adult-onset FSHD and might respond differently to treatment. The study will enroll eighty children aged 5 to 17 years with genetically confirmed FSHD and symptoms of muscle weakness. Participants are divided into two groups based on their ability to complete a 10-meter walkrun test those who can do it in under twelve seconds, and those who take longer or cannot complete it. Researchers will track motor function using the FSHD composite functional measure FSHD-COM, reachable workspace assessments, and quantitative MRI measures over two years to observe disease progression. Throughout the study, children will undergo regular evaluations including functional tests and MRI scans to measure muscle volume, fat fraction, and other indicators of disease progression. The main outcomes measured are changes in pediatric FSHD-COM and reachable workspace over the two years. Secondary outcomes include detailed MRI muscle assessments. Participants will be monitored for their ability to complete testing and MRI procedures, with accommodations for those who experience anxiety about MRI. The total participation duration for each child is two years.

Motor Outcomes to Validate Evaluations in Pediatric FSHD (MOVE Peds)