Pharming is working on a new recombinant treatment intended to have better immunogenicity, safety and efficacy profiles than drugs currently available to treat the disease.
Pompe disease affects around one in 40,000 people. It is caused by the absence or deficiency of the lysosomal enzyme alpha-glucosidase (GAA), causing progressive decrease in muscle strength starting with the legs and moving to smaller muscles in the trunk and arms, such as the diaphragm and other muscles required for breathing. Without GAA to break down the glycogen into the simpler sugar glucose, the glycogen builds up as fatty deposits in cells.
The most common causes of death are cardiac failure and respiratory failure.