SCIENCE
GAUCHER DISEASE
Gaucher Disease is a lysosomal storage disorder caused by a mutation in the GBA1 gene. Mutation in GBA1 lead to reduced activity of the lysosomal enzyme glucocerebrosidase (GCase). In Gaucher patients, GCAse deficiency results in the accumulation of glucosylceramide glucosylceramide (GL1). Depending on the severity of the GCase deficiency, Gaucher patients can develop severe neurological symptoms as is seen in type II and III Gaucher disease or more develop mild non-neurological symptoms as are seen in type I Gaucher disease.
Enzyme replacement therapy (ERT) and small molecule substrate reduction therapies (SRT) are available for Gaucher disease, but these therapies do not address the neurological features of Gaucher disease because they do not cross the blood brain barrier. AceLink is developing brain penetrant small molecule SRT that could be used to treat CNS and non-CNS symptoms of Gaucher disease.