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

TL;DR

This study introduces a non-invasive MRI method to assess lung function in late-onset Pompe disease patients, offering a new way to monitor respiratory issues without relying on patient cooperation.

Contribution

The study introduces PREFUL MRI as a novel, label-free, and effort-independent method for evaluating lung function in Pompe disease.

Findings

PREFUL MRI successfully detected ventilation-related impairments in LOPD patients.

Ventilation defects varied based on non-invasive ventilation status.

PREFUL MRI is feasible, fast, and well-tolerated in clinical settings.

Abstract

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.

•PREFUL MRI provides functional lung imaging and supports disease monitoring•PREFUL MRI detects ventilation defects that reflect LOPD disease severity•Respiratory support status influences ventilation defects•PREFUL MRI is fast, well tolerated, and feasible in clinical routine

PREFUL MRI provides functional lung imaging and supports disease monitoring

PREFUL MRI detects ventilation defects that reflect LOPD disease severity

Respiratory support status influences ventilation defects

PREFUL MRI is fast, well tolerated, and feasible in clinical routine

Health sciences; neuroscience

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