Pompe Disease

BMN-701: IFG2-GAA for Pompe

Pompe Disease is a fatal genetic muscle disorder caused by a deficiency of acid α-glucosidase (GAA), a lysosomal enzyme that is responsible for the breakdown of glycogen. Pompe Disease is a glycogen storage disorder affecting almost all tissues of the body, with the heart, diaphragm, and skeletal muscles being the most seriously affected. This disease presents itself mainly in three phenotypes; the infantile form which is the most severe phenotype; the juvenile form, and the adult form, which has the highest incidence of occurrence (1/50,000). The estimated worldwide prevalence of all forms is 5,000-10,000 people.

The key attribute of BMN-701 is its ability to bind to key cell receptors that direct the enzyme to the cell’s lysosome. Instead of trying to engineer cells to make GAA with higher levels of mannose-6 phosphate, which in the case of GAA lowers cell productivity and significantly increases manufacturing costs, BMN-701 takes advantage of the fact that the peptide IGF-2 also binds to the M6P receptor. Every molecule of BMN-701, a fusion of IGF-2 and GAA, can bind the mannose-6 phosphate receptor, be taken up into cells and trafficked to the lysosome where it can degrade the glycogen that causes Pompe disease.