TY - JOUR
T1 - Quantitative muscle MRI to follow up late onset Pompe patients: A prospective study
AU - Figueroa-Bonaparte, Sebastian
AU - Llauger, Jaume
AU - Segovia, Sonia
AU - Belmonte, Izaskun
AU - Pedrosa, Irene
AU - Montiel, Elena
AU - Montesinos, Paula
AU - Sánchez-González, Javier
AU - Alonso-Jiménez, Alicia
AU - Gallardo, Eduard
AU - Illa, Isabel
AU - Barba-Romero, Miguel Angel
AU - Barcena, Joseba
AU - Carbonell, Pilar
AU - Carzorla, María Rosario
AU - Creus, Carlota
AU - Coll-Cantí, Jaume
AU - Díaz, Manuel
AU - Domínguez, Cristina
AU - Fernández-Torrón, Roberto
AU - García-Antelo, María José
AU - Grau, Josep Maria
AU - De Munáin, Adolfo López
AU - Martínez-García, Francisco Antonio
AU - Morgado, Yolanda
AU - Moreno, Antonio
AU - Morís, Germán
AU - Muñoz-Blanco, Miguel Angel
AU - Nascimento, Andres
AU - Parajua, José Luis
AU - Robledo-Strauss, Arturo
AU - Rojas-Marcos, Íñigo
AU - Salazar, Jose António
AU - Usón, Mercedes
AU - Díaz-Manera, Jordi
PY - 2018/12/1
Y1 - 2018/12/1
N2 - © 2018 The Author(s). 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.
AB - © 2018 The Author(s). 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.
U2 - https://doi.org/10.1038/s41598-018-29170-7
DO - https://doi.org/10.1038/s41598-018-29170-7
M3 - Article
C2 - 30022036
VL - 8
JO - Scientific Reports
JF - Scientific Reports
SN - 2045-2322
M1 - 10898
ER -