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.
Authors
- Matthias Vorgerd (ORCID: https://orcid.org/0000-0002-1782-4642)
- Martin Winterholler
- Frauke Alves (ORCID: https://orcid.org/0000-0002-6258-5409)
- Adrian P. Regensburger (ORCID: https://orcid.org/0000-0001-8244-1261)
- Ferdinand Knieling (ORCID: https://orcid.org/0000-0002-3535-2626)
- Roman Raming
- R. E. Grimm (ORCID: https://orcid.org/0000-0002-7588-1194)
- Alexandra L. Wagner (ORCID: https://orcid.org/0000-0001-6673-358X)
- Nadine Bayerl (ORCID: https://orcid.org/0000-0002-8530-6783)
- Adrian Büehler
- Lara Schlaffke (ORCID: https://orcid.org/0000-0002-0716-3780)
- Joachim Woelfle
- Lina Tan
- Merle Claßen
- Michael Uder
- Regina Trollmann
- Benjamin Stoecklein
- Hannah Vogt
- Andreas Hahn
- Jana Zschüntzsch
- Matthias Türk
- Rafael Heiss
- Sandy Schmidt
- Alexander Mensch
Institutions
- Siemens (Germany) (DE)
- Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
- University Medical Center (US)
- Universitätsklinikum Erlangen (DE)
- cts CaritasKlinikum Saarbrücken (DE)
- Universitätsmedizin Göttingen (DE)
- Max Planck Institute of Experimental Medicine (DE)
- BG University Hospital Bergmannsheil Bochum (DE)
- Giessen School of Theology (DE)
- Comprehensive Cancer Center Erlangen (DE)
- University Hospital in Halle (DE)
- Siemens Healthineers (Germany) (DE)
- University of Göttingen (DE)
- Charité - Universitätsmedizin Berlin (DE)
Publication Details
- Journal
- iScience
- Published
- 2026-02-25
- DOI
- https://doi.org/10.1016/j.isci.2026.115136
- Primary Topic
- Atomic and Subatomic Physics Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00