Hereditary diseases are caused by mutations in genes, and more than 7,000 rare diseases
affect over 30 million Americans. For more than 30 years, hundreds of researchers have …

Highlights•AAV is a non-pathogenic virus, and recombinant AAV vectors have proven to be
highly efficient for gene delivery to a wide variety of cell types, tissue, and organs in small …

In the past decade, recombinant vectors based on a non-pathogenic parvovirus, the adeno-
associated virus (AAV), have taken center stage as a gene delivery vehicle for the potential …

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 …

The ability to elicit robust and long-term transgene expression in vivo together with minimal
immunogenicity and little to no toxicity are only a few features that make recombinant adeno …

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, also known as glycogen storage disease type II, is caused by the lack or
deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac …

Adeno-associated viruses (AAVs) are being increasingly used as gene therapy vectors in
clinical studies especially targeting central nervous system (CNS) disorders …

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 …