Enzyme-replacement therapy with recombinant human GAA (rhGAA) has been a standard treatment for Pompe's disease since it was approved in 2006, they noted.

Lysosomal storage diseases (LSDs) are rare genetic disorders caused by lack of enzymes. Learn how these rare genetic conditions impact health and development.

What is Pompe Disease? Also known as Glycogen Storage Disease Type II, Pompe disease is a rare genetic disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). This enzyme is ...

Pompe disease is a rare, severe neuromuscular disorder caused by deficiency of the lysosomal enzyme, acid alpha glucosidase (GAA).

The company’s lead candidate, ABX1100, is a Centyrin-siRNA conjugate targeting Pompe disease, a rare, inherited metabolic disorder caused by mutations in the GAA gene. This gene mutation leads to a ...

According to the ACMG guidelines, this gene mutation is pathogenic. Further testing for GAA enzyme activity in the patient showed reduced activity. Combining the clinical presentation, physical ...

Pompe disease is caused by a deficiency in the lysosomal enzyme acid α-glucosidase (GAA) that leads to accumulation of glycogen in the lysosomes, mainly seen in skeletal and cardiac muscles.

It results in severe disability and reduces life expectancy. It is caused by mutations in the gene that encodes the enzyme acid alpha-glucosidase (GAA), which is needed to break down glycogen into ...

In Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme, which causes a build-up of glycogen that can seriously damage the muscles and heart.

Reduced or absent levels of GAA lead to accumulation of glycogen in cells, which is believed to result in the clinical manifestations of Pompe disease.

Some aspects of Pompe disease have been clearly established. It is a genetic metabolic disorder inherited in an autosomal recessive manner. Patients with the disease have a deficiency in the lysosomal ...