Creating digital twins for clinical trials and research into FSHD muscular dystrophy
Pioneering research using MRI scans and AI is developing a ‘digital twin’ that could replace placebos in clinical trials for muscular dystrophy and other neuromuscular conditions—all made possible by an Australian-first, patient-led registry.
Facioscapulohumeral muscular dystrophy (FSHD) is a highly debilitating, progressive muscle wasting disease that currently affects over 3000 Australians and nearly a million people worldwide. It has a profound impact on quality of life, with 30% of adults diagnosed needing wheelchair support by middle age, and the severe, early-onset form in children results in an average life expectancy of only 35 years.
Dr Seth Friedman of Seattle’s Children’s Hospital and Professor Silvia Blemker of the University of Virgina and Springbok Analytics, alongside Emma Weatherley of FSHD Global Research Foundation in Sydney, summarise the work done so far in this space as well as highlight future directions for research, in this review article published in the journal, Neuromuscular Disorders, today.
After pioneering a way to use artificial intelligence to turn 2D MRI data into personalised 3D musculoskeletal analyses, a type of digital twin, to optimise a person’s health and performance, Prof Silvia Blemker and team are now using quantitative whole-body MRI for muscle-by-muscle quantification, revealing new metrics, novel biomarkers, and updated considerations that can advance functional modeling approaches.
This work is spearheaded by FSHD Global Research Foundation, based in Sydney, which funds research, clinical trials, and advocacy to ensure treatments, and eventually a cure, reach Australians affected by this form of muscular dystrophy and other muscle wasting conditions that can benefit from innovations in muscle regeneration.
“This is significant article for FSHD Global, highlighting how far we have come. We are the only country collecting MRI in our registry as a baseline to gain quantitative data about FSHD in the population. It shows we are pioneering new technology through our registry and powering important research while empowering patients with actionable information to help them manage their disease at the same time,” said Emma Weatherley, CEO of FSHD Global Research Foundation and contributing author on the paper.
The foundation funded developmental of the technology for whole body 3D muscle imaging, helping to identify disease biomarkers and develop a progression model that can guide clinical trials. The hope is that this progression model can replace the need for placebos in FSHD clinical trials, ensuring all patients who participate get access to potential treatments.
The results of this research emphasise the need for muscle-informed and patient-specific trial designs that identify and longitudinally track an individual’s at-risk muscles alongside paired functional tasks to improve sensitivity and statistical power.
Future directions include integration with motion capture and complementary biomarkers to better understand disease expression, progression, and functional associations in FSHD.
If you are in Australia and think you or a family member may have FSHD, by joining the Cure FSHD patient registry, you will receive a free saliva test kit and can help make more vital research like this possible. Join Cure FSHD here: Cure FSHD
Details of Review Article:
Quantitative whole-body MRI in FSHD: Assessing systemic involvement and future directions, Seth D. Friedmana, Doris Leung, Lara Riem, Olivia DuCharme, Kathryn Eve Costanzo, Emma Weatherley, Allison N. McCrady, Anna Fainoa, Leo Wang, Dennis W.W. Shawa, George H.J. Shaw, Jeff Statland, Silvia S. Blemker.
Neuromuscular Disorders – 22 May 2026 – Link to full review article: Quantitative Whole-Body MRI in FSHD: Assessing Systemic Involvement and Future Directions – ScienceDirect