Sachs disease accumulate high levels of GM2 which causes brain cells to die. in brain cells; this accumulation causes the brain cells to die.297 Decreasing the synthesis of GM2, which is the substrate for the missing enzyme, should decrease cell death and moderate the course of the disease. The inhibitor miglustat (Zavesca®) has undergone clinical trials in children with juvenile GM2 Tay–Sachs and Sandhoff disease and children under the age of 2 years with Tay–Sachs disease or Sandhoff disease with no clear benefit,240,297 but showed modest benefit in stabilizing Niemann–Pick type C disease.244

Metabolic bypass therapy is a theoretical approach that would introduce special chemicals called activators to increase the synthesis or activity of alternative lysosomal enzymes that could then degrade larger-than-normal amounts of a substrate like GM2 and partially bypass the need for the defective enzyme.297

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