Mapping lung function in late-onset Pompe disease using label-free functional MRI

Pompe disease is a life-limiting metabolic myopathy characterized by proximal muscle weakness. In late-onset Pompe disease (LOPD), respiratory failure due to respiratory muscle weakness is the leading cause of death. Monitoring relies on spirometry, which is often not feasible in pediatric or severely affected patients, highlighting the need for effort-independent assessments. Phase-resolved functional lung (PREFUL) MRI enables non-invasive, label-free evaluation of lung function during free breathing without active cooperation. In this prospective pilot study, ten LOPD patients and ten age- and sex-matched healthy controls underwent 0.55 T PREFUL MRI. The method proved feasible and detected ventilation-related functional impairments in LOPD patients. Moreover, differences were observed depending on non-invasive ventilation (NIV) status. These findings align with the pathophysiology of respiratory muscle involvement in LOPD. PREFUL MRI may serve as a non-invasive imaging biomarker for respiratory dysfunction and overall disease burden in neuromuscular diseases.