Professor Silvia Blemker at the University of Virginia is preparing a normative study with 150 unaffected children and teens to collect baseline information and better understand many unknowns around bone and muscle development. This world-first study, which FSHD Global Research Foundation hopes to fund with community support, will use the amazing Springbok technology. AI analyses will bring together layered MRI scans, chemical markers, and other information on bone and muscle development in children to create a paediatric normative database. This database is crucial.
If we do not have this information, no clinical trial for FSHD will be possible for anyone under the age of 16.
We asked Professor Blemker for more details:
Q: How crucial is this research for children affected by FSHD?
This research is extremely important because children with early-onset FSHD are developing muscle weakness during the same years that their muscles, bones, and movement patterns are rapidly changing with growth. Right now, doctors and researchers do not have good tools to tell the difference between normal developmental changes and disease-related muscle loss in growing children. Most of the measurements currently used in FSHD were developed for adults, where the body is much more stable over time. That creates a major challenge for pediatric clinical trials and for understanding whether a treatment is truly helping a child. This project aims to build the first framework specifically designed to understand muscle health and movement in growing children with FSHD. Ultimately, it could help improve disease monitoring, treatment evaluation, and the development of better therapies for children living with FSHD.
Q: Why hasn’t this research been done before? Why is it so innovative?
This research has not been done before because studying muscle disease in growing children is incredibly complicated. Children are not just “small adults.” Their muscles, bones, strength, and movement patterns are constantly changing during growth, making it very difficult to know what changes are caused by normal development versus disease versus a combination of both. Most current muscle imaging and biomechanics tools were designed for adults and do not account for these developmental changes. What makes this project innovative is that it combines advanced MRI imaging with computer modeling and biomechanics to create a system specifically designed for children. By taking growth and skeletal development into account, the project will allow researchers to better understand how FSHD affects the developing body and how those effects change over time.
Q: How will this work benefit other research and patients beyond FSHD?Although this project is focused on children with FSHD, the impact could extend far beyond a single disease. The same tools and models could help researchers study many other pediatric conditions that affect muscles and movement, including other muscular dystrophies, cerebral palsy, rehabilitation after injury, overuse injuries, and growth-related orthopedic problems. More broadly, this work addresses a major gap in pediatric medicine and human performance research: we still do not fully understand how the musculoskeletal system develops during childhood and adolescence. The imaging data, modeling approaches, and analysis tools developed through this project could help improve research on youth sports injuries, rehabilitation, physical development, and pediatric clinical trials more broadly.