Phase 1/2 study of BMN 701 for the treatment of Pompe disease

BioMarin Pharmaceutical announced it has initiated a Phase 1/2 trial of BMN 701 for the treatment of Pompe disease. The trial is an open-label study to evaluate the safety, tolerability, pharmacokinetics, pharmacodynamic and clinical activity of BMN 701. BMN 701 will be administered as an intravenous infusion every 2 weeks at doses of 5mg/kg, 10mg/kg and 20mg/kg. The company expects to enroll approximately 30 patients between the ages of 13-65 years old with late-onset Pompe disease for a treatment period of 24 weeks.

BMN 701 is a novel fusion protein of insulin-like growth factor 2 and acid alpha glucosidase (IGF2-GAA) in development for the treatment of Pompe disease, a lysosomal storage disorder. This disorder is caused by a deficiency in the lysosomal enzyme acid alpha glucosidase which leads to the accumulation of glycogen in muscle cell lysosomes and results in cell death and eventual degeneration of skeletal muscles. 

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