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 …

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 …

Rare monogenic disorders such as lysosomal diseases have been at the forefront in the
development of novel treatments where therapeutic options are either limited or unavailable …

Pompe disease (PD) is a monogenic disorder caused by mutations in the acid alpha-
glucosidase gene (Gaa). GAA is a lysosomal enzyme essential for the degradation of …

Background Neonatal gene therapy is a promising strategy for treating diseases diagnosed
before or shortly after birth. Early and long‐term expression of therapeutic proteins may limit …

Gene therapy for the treatment of patients with Pompe disease is feasible and offers an
opportunity to fully correct the principal pathology leading to cellular glycogen accumulation …

Pompe disease is an autosomal recessive lysosomal storage disorder characterized by
progressive muscle weakness. The disease is caused by mutations in the acid α …

Background Humanistic burden considers the impact of an illness on a patient's health-
related quality of life (HRQoL), activities of daily living (ADL), caregiver health, and caregiver …

More than 50 lysosomal storage diseases (LSDs) are associated with lysosomal
dysfunctions with the frequency of 1: 5,000 live births. As a result of missing enzyme activity …

Enzyme and gene replacement strategies have developed into viable therapeutic
approaches for the treatment of Pompe disease (acid α-glucosidase (GAA) deficiency) …