Vial Announces $67M Series B Led by General Catalyst
Read Vial's feature in the WSJ

Pompe Disease

What is Pompe Disease? Pompe disease is a glycogen type lysosomal storage disease. It is an autosomal recessive disease caused by the mutation in the gene for acid alfa-glucosidase that leads to unstable mRNA that cannot be translated to form a sufficient quantity of enzyme. As acid alfa-glucosidase is an enzyme used by the lysosome to metabolize glycogen, a deficiency causes the accumulation of glycogen.

Signs and Symptoms of Pompe Disease

Pompe disease is classified based on the onset of disease, infantile-onset and late-onset, which depends on the amount of acid alpha-glycosidase present. In both classes, the accumulated glycogen is implicated in the damage of striated muscle cells, affecting distal voluntary muscles first. Damage to cardiac muscle and the diaphragm is seen at the end of the disease and contributes to mortality.

Infantile-onset Pompe disease is diagnosed at birth and is more severe. Symptoms may include:

  • Hypotonia/weakness of muscles
  • Motor delay
  • Cardiomegaly
  • Hepatomegaly
  • Macroglossia
  • Faltering growth
  • Respiratory failure

Late-onset Pompe disease is often recognized in childhood through symptoms such as:

  • Proximal muscle weakness
  • Lower limb weakness

Source: Unnisa, Z., Yoon, J. K., Schindler, J. W., Mason, C., & van Til, N. P. (2022). Gene Therapy Developments for Pompe Disease. Biomedicines, 10(2), 302. https://doi.org/10.3390/biomedicines10020302