Certain protein modifications may enhance the ability of a therapeutically-delivered acid alpha-glucosidase (GAA) enzyme to be secreted and taken up by neighboring cells in models of Pompe disease, a study suggested. Such approaches could offer ways to improve the effectiveness of gene therapies for Pompe, although more work is…
A skin biopsy is one of the tests that doctors can use to help diagnose Pompe disease, a rare genetic disease characterized by the buildup of complex sugar molecules called glycogen in muscle and other tissues. This buildup may interfere with function and cause the symptoms…
Lower activity of the two lysosomal enzymes underlying Pompe and Fabry diseases — acid alpha-glucosidase enzyme (GAA) and alpha-galactosidase A (GLA) — is linked to dilated arteries in the brain, a preliminary study reports. The study, “Association of Low Lysosomal Enzymes Activity With Brain Arterial Dilatation,” was…
Perlara biotech is collaborating with the University of Notre Dame in Indiana and the Warren Family Research Center for Drug Discovery and Development to develop new treatments for glycogen storage disorders, including Pompe and Cori diseases. Pompe disease mainly causes muscle weakness, impaired gait, and muscle pain. The three types…
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