Abstract
Late onset Pompe disease (LOPD) is a slow, progressive disorder characterized by skeletal and respiratory muscle weakness. Enzyme replacement therapy (ERT) slows down the progression of muscle symptoms. Reliable biomarkers are needed to follow up ERT-treated and asymptomatic LOPD patients in clinical practice. In this study, 32 LOPD patients (22 symptomatic and 10 asymptomatic) underwent muscle MRI using 3-point Dixon and were evaluated at the time of the MRI with several motor function tests and patient-reported outcome measures, and again after one year. Muscle MRI showed a significant increase of 1.7% in the fat content of the thigh muscles in symptomatic LOPD patients. In contrast, there were no noteworthy differences between muscle function tests in the same period of time. We did not observe any significant changes either in muscle MRI or in muscle function tests in asymptomatic patients over the year. We conclude that 3-point Dixon muscle MRI is a useful tool for detecting changes in muscle structure in symptomatic LOPD patients and could become part of the current follow-up protocol in daily clinics.
Highlights
Pompe disease is a genetic disorder characterized by glycogen accumulation in all tissues of the body[1]
We have previously demonstrated that Quantitative muscle MRI (qMRI) correlates strongly with common outcome measures used in LOPD19
Our main aim was to investigate MRI changes occurring in the muscles of Late onset Pompe disease (LOPD) patients and assess whether qMRI was more sensitive to changes after one year than other commonly used motor function tests or patient-reported outcome measures (PROMs)
Summary
Pompe disease is a genetic disorder characterized by glycogen accumulation in all tissues of the body[1]. In following up asymptomatic LOPD patients, the main aim is to detect changes in muscle function that could support ERT treatment. Normal muscle function tests do not reveal the integrity of the muscle structure of these patients; muscle fiber loss and fatty replacement could have started without yet influencing the results of the tests It is questionable whether muscle function tests are precise enough to detect subtle changes, and most authors agree that we need reliable non-invasive biomarkers of disease progression[12,13]. Our main aim was to investigate MRI changes occurring in the muscles of LOPD patients and assess whether qMRI was more sensitive to changes after one year than other commonly used motor function tests or patient-reported outcome measures (PROMs).
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