This study aims to analyze serum and plasma samples from patients with late onset Pompe disease treated and not treated with enzyme replacement therapy (ERT) to identify microRNA that could be specific of the disease. The investigators will correlate the concentration of these microRNA with several muscle function tests and quantitative muscle MRI to know whether they are good biomarkers of progression.
Study Type
OBSERVATIONAL
Enrollment
35
Patients will be treated following the decision of their doctors. The investigators are going to analyze serum samples of these patients
Hospital de la Santa Creu i Sant Pau
Barcelona, Barcelona, Spain
MicroRNA in serum samples
Investigators are going to study microRNA following a microarray analysis of serum samples from patients treated and non treated
Time frame: Baseline
Muscle function test
6 minutes walking test (6MWT), time to climb 4 steps, time to descend 4 steps, Activlim, time to walk 10 meter, Medical Research Council scale (MRC), myometry
Time frame: Baseline and one year
Whole body muscle MRI
2 point dixon studies of thigh muscles
Time frame: Baseline a and one year
Changes in microRNA concentration
Investigators will analyze concentration of microRNA after one year follow up in every single patients
Time frame: One year period
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