In recent years, adeno-associated virus (AAV) has become the most important vector for
central nervous system (CNS) gene therapy. AAV has already shown promising results in …

Pompe disease is a rare and deadly muscle disorder. As a clinical entity, the disease has
been known for over 75 years. While an optimist might be excited about the advances made …

Glycogen storage disease type II or Pompe disease is a severe neuromuscular disorder
caused by mutations in the lysosomal enzyme, acid α-glucosidase (GAA), which result in …

Pompe disease is an inherited neuromuscular disorder caused by deficiency of the
lysosomal enzyme acid alpha-glucosidase (GAA). The most severe form is infantile-onset …

A first-in-human trial of diaphragmatic gene therapy (AAV1-CMV-GAA) to treat respiratory
and neural dysfunction in early-onset Pompe disease was conducted. The primary objective …

Pompe disease (glycogen storage disease type II) is caused by mutations in acid α-
glucosidase (GAA) resulting in lysosomal pathology and impairment of the muscular and …

Gene correction is a valuable strategy for treating inherited retinal degenerative diseases, a
major cause of irreversible blindness worldwide. Single gene defects cause the majority of …

Pompe disease is a severe disorder caused by loss of acid α‐glucosidase (GAA), leading to
glycogen accumulation in tissues and neuromuscular and cardiac dysfunction. Enzyme …

Pulmonary rehabilitation is typically used for reducing respiratory symptoms and improving
fitness and quality of life for patients with chronic lung disease. However, it is rarely …

Pompe disease is a lysosomal storage disorder caused by acid-α-glucosidase (GAA)
deficiency, leading to glycogen storage. The disease manifests as a fatal cardiomyopathy in …