Pompe disease an inherited neuromuscular disorder that is caused by certain gene mutations, particularly in the gene that makes acid alpha-glucosidase (GAA).
In Pompe’s most severe form, it’s often fatal because the lack of GAA weakens the heart and skeletal muscles.
In a healthy body, GAA breaks down glycogen—which, when properly processed, turns into glucose: the fuel that muscles require to function properly. There are more than 300 mutations in the GAA gene that can result in Pompe disease. The severity of the disease is directly related to the degree of enzyme deficiency.
Recently, pharma giant, Sanofi/Genzyme, presented data from phases I and II of their second-generation enzyme replacement clinical study.
Because the data findings were so positive, Sanofi will launch phase III of the study, with a focus on treating patients who have late-onset Pompe disease.
