What question did this study set out to answer?

This study aims to assess whether quantitative MRI can identify early muscle involvement and correlate with clinical decline in late-onset Pompe disease.

June 3, 2026Journal of Cachexia Sarcopenia and MuscleOpen Access

Longitudinal Assessment of Muscle Involvement in Late‐Onset Pompe Disease Using Quantitative MRI: A Prospective Cohort Study

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This study aims to assess whether quantitative MRI can identify early muscle involvement and correlate with clinical decline in late-onset Pompe disease.
Conducted a prospective cohort study over 2 years with 25 participants.
Utilized quantitative MRI and various clinical tests to evaluate muscle function.
Analyzed data using multivariate analysis of variance and linear mixed-effects models.
Clinically significant differences in assessments like ACTIVLIM, NSS, and MRC (p ≤ 0.027).
Baseline qMRI metrics showed significant differences for fat fraction (mean difference = 0.071, p < 0.001) and wT2 (mean difference = 1.925, p < 0.001).
qMRI metrics correlated strongly with clinical outcomes, indicating it may serve as a sensitive early marker for disease progression.

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Implication

Prospective cohort study examines qMRI's ability to detect muscle decline in late-onset Pompe disease, suggesting early intervention may be possible.

Cite This Study

Lorenzo et al. (2026) studied this question.

synapsesocial.com/papers/6a1fc718dee9eb8c0dce7fd9 https://doi.org/10.1002/jcsm.70304

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Implication

Prospective cohort study examines qMRI's ability to detect muscle decline in late-onset Pompe disease, suggesting early intervention may be possible.

Longitudinal Assessment of Muscle Involvement in Late‐Onset Pompe Disease Using Quantitative MRI: A Prospective Cohort Study

Key Points

Discussion

Implication

Cite This Study

Longitudinal Assessment of Muscle Involvement in Late‐Onset Pompe Disease Using Quantitative MRI: A Prospective Cohort Study

Key Points

Discussion

Implication

Cite This Study

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