Longitudinal Assessment of Muscle Involvement in Late-Onset Pompe Disease Using Quantitative MRI: A Prospective...

Area of Science:

• Neurology
• Radiology
• Metabolic Diseases

Background:

• Late-onset Pompe disease (LOPD) is a progressive metabolic myopathy.
• Early detection is crucial as irreversible muscle damage occurs before symptoms.
• Enzyme replacement therapy (ERT) has improved outcomes but early detection remains key.

Purpose of the Study:

• To investigate if quantitative MRI (qMRI) can detect subclinical disease progression in LOPD.
• To correlate qMRI findings with clinical decline in LOPD patients.

Main Methods:

• 25 participants (10 LOPD, 15 controls) underwent longitudinal clinical and 3.0T lower extremity MRI assessments over 2 years.
• MRI sequences included fat quantification (fat fraction [FF]), T2 mapping (wT2), and diffusion-weighted imaging.
• Clinical assessments included strength (MRC), motor function (QMFM), patient-reported outcomes (ACTIVLIM, NSS), and gait analysis.

Main Results:

• Baseline qMRI showed significant differences between LOPD patients and controls in FF, wT2, and fractional anisotropy.
• Longitudinal analysis revealed a significant increase in thigh muscle FF in LOPD patients over time.
• qMRI metrics, particularly FF, significantly correlated with clinical outcomes like QMFM and ACTIVLIM.

Conclusions:

• qMRI detects subclinical muscle alterations in LOPD, serving as a sensitive surrogate marker for disease progression.
• Fat fraction (FF) changes detected by qMRI appear earlier than clinical outcome alterations.
• Further long-term studies are needed to validate qMRI for monitoring LOPD progression and treatment response.