Miglustat treatment for patients with GM1 gangliosidosis[14] and combination therapy using miglustat and a ketogenic diet are currently ongoing in phase 2.[15] In addition, 2 kinds of gene therapies (a single dose gene transfer vector AAV9/GLB1 or PBGM01 to deliver a functional copy of the GLB1 gene to the brain and peripheral tissues) for patients with GM1 gangliosidosis are ongoing in phase 2.[16] In addition, as a treatment is currently being developed, early diagnosis is important in GM1 gangliosidosis. The gene discussed is GLB1; the disease is GM1 gangliosidosis.