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

Lina Tan1,2,3, Alexandra L Wagner1,2,4, Rafael Heiss5

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Phase-resolved functional lung (PREFUL) MRI is a feasible, non-invasive tool for assessing lung function in late-onset Pompe disease (LOPD). It detects ventilation impairments, offering a needed alternative to spirometry for monitoring respiratory health in LOPD patients.

Keywords:
health sciencesneuroscience

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Area of Science:

  • Medical Imaging
  • Pulmonology
  • Neuromuscular Disorders

Background:

  • Pompe disease (PD) is a metabolic myopathy causing progressive muscle weakness.
  • Late-onset Pompe disease (LOPD) patients often die from respiratory failure due to respiratory muscle weakness.
  • Current monitoring via spirometry is effort-dependent and not suitable for all LOPD patients.

Purpose of the Study:

  • To evaluate the feasibility and efficacy of Phase-resolved functional lung (PREFUL) MRI in LOPD patients.
  • To identify ventilation-related functional impairments in LOPD.
  • To explore differences in lung function based on non-invasive ventilation (NIV) status.

Main Methods:

  • Prospective pilot study involving ten LOPD patients and ten healthy controls.
  • Utilized 0.55 T PREFUL MRI for non-invasive, label-free lung function assessment during free breathing.
  • Compared PREFUL MRI findings between LOPD patients and controls, and analyzed effects of NIV status.

Main Results:

  • PREFUL MRI was feasible in LOPD patients and healthy controls.
  • The study detected significant ventilation-related functional impairments in LOPD patients compared to controls.
  • Lung function differences were observed correlating with non-invasive ventilation (NIV) status in LOPD patients.

Conclusions:

  • PREFUL MRI is a viable, non-invasive imaging biomarker for assessing respiratory dysfunction in LOPD.
  • This method provides effort-independent lung function evaluation, addressing limitations of spirometry.
  • PREFUL MRI may help monitor disease progression and treatment efficacy in LOPD and other neuromuscular diseases.