Research

Magnetic resonance imaging (MRI) seems to be an effective and efficient tool to evaluate muscular status and monitor patients with late-onset Pompe disease (LOPD), according to researchers. Their study, “Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study,” was published in the…

Patients with late-onset Pompe disease have a lower rate of severe heart disease than those with other forms of the disease, according to a large, retrospective study. This finding suggests that these patients may be able to have less frequent heart-related follow-up exams, such as electrocardiograms (ECG) and echocardiograms (Echo).

Gene therapy, using an improved version of a virus as a delivery vehicle, greatly improved muscle and respiratory function in a mouse model of Pompe disease. The study, “Systemic delivery of AAVB1-GAA clears glycogen and prolongs survival in a mouse model of Pompe disease,” was published in…

Four cases of infantile-onset Pompe disease recently reported in Australia help shed light on some of the unique challenges care providers face in diagnosing and managing this genetic disease. Early recognition of the disease’s signs and prompt initiation of enzyme replacement therapy (ERT) are critical to ensuring the best patient outcome…

A neuron-specific gene therapy treatment improved motor coordination in a mouse model of Pompe disease and highlights the role that neuronal dysfunction plays in this disease. The study, “A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice,” was published in the journal Molecular…

Patients with Pompe disease may develop structural changes in the basilar artery — an important artery that supplies oxygen to the brain — that may affect their risk for cerebrovascular complications, such as stroke. The study with that finding, “Decreased outlet angle of the superior cerebellar artery as indicator…

The National Institutes of Health (NIH) has awarded EpiVax with a Small Business Innovation Research (SBIR) grant of $324,980. The company is going to use the funding to further develop its Personalized Immunogenicity Assessment (PIMA) tool, designed to assess risk of enzyme replacement therapy failure in patients with…

Treatment with enzyme replacement therapy can help children with classic infantile Pompe disease reach adulthood. However, it fails to prevent the long-term effects of the disease in the brain and consequent   development of intellectual disabilities, a study shows. The study titled “Classic infantile Pompe patients…

Researchers have proposed a cheap, simple, and more sensitive screening test to identify Pompe disease and differentiate it from other neuromuscular disorders. The study, “Vacuolated PAS‐positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy,” was published in the Journal of Cellular Physiology.

April 15 was International Pompe Day, and Amicus Therapeutics helped to raise awareness about the disease, as well as Fabry disease, by participating in several activities throughout the month, which also is designated Fabry Disease Awareness Month. Fabry disease is an inherited lysosomal storage disorder caused by deficiency of…