Pompe disease in adult-onset patients research hub

Carbon spectroscopy MRI: a non-invasive tool to detect late-onset Pompe disease (LOPD)

This observational UK study looks at whether a specialised, painless MRI scan can measure sugar build-up in the muscles of people with Pompe disease. Researchers hope this scan will eventually replace muscle biopsies, helping doctors monitor how well treatments work without needing invasive tissue samples.