General information

Pompe disease is a hereditary myopathy caused by mutations in the alpha-glucosidase gene. This enzyme metabolizes glycogen in the interior of the lysosomes in the human body tissues, including skeletal muscle or heart. In patients with absence of this enzyme, glycogen accumulates gradually in the interior of the lysosomes preventing the normal function of these organelles. As the disease progresses, the cells are plenty of lysosomes charged with not metabolized glycogen and detritus, which leads to dysfunction of cells and their death.

Pompe disease may have an early childhood onset or debut later in adolescence or adulthood. Children with classical children’s forms have muscle weakness that onset in the first months of life and that courses with hypotonia, problems to move arms and legs, dysphagia and respiratory problems produced by respiratory muscles weakness. Patients develop a myocardial hypertrophy which was the cause of death in the majority of cases before the discovery of enzyme substitution therapy (ERT). The adult forms are more heterogeneous from the clinical point of view, and may debut as isolated hiperckemias or with slowly progressive proximal muscle weakness which is usually associated to a respiratory disfunction.

The ERT is the accepted treatment for Pompe disease. This treatment has been shown to improve cardiac and motor alterations in patients with classic infantile Pompe disease, and also motor and respiratory parameters of patients with adult Pompe disease. Long-term follow-up of the patients is performed usually by motor and respiratory functional tests, although it would be ideal to have biological and radiologic markers to help us to understand the evolution of the patients.

Our group has at the present two complementary lines of research in Pompe disease:

1. Utility of quantitative magnetic resonance imaging in the follow-up of Pompe disease: we are conducting a follow-up study of patients with adult Pompe disease. In this study 36 patients will be visited annually in our unit performing a clinical interview, physical tests, motor, respiratory tests, blood analysis and magnetic resonance imaging. The resonance includes quantitative techniques that allow to obtain the rate of progression of the fat deposit in the ill muscles.
2. Peripheral blood microRNAs expression: we are conducting a study of characterization of microRNAs in blood of the patients recruited in the study of muscle MRI. In a first step we will identify microRNAs which are increased in the blood of patients to try to discover specific biomarkers of the disease. In parallel we will correlate this microRNAs with physical and radiologic data to know whether these microRNAs could be useful to follow up patients.

Publications

Ongoing Projects