Tag: Substrate reduction therapy

Affecting millions worldwide, lysosomal storage disorders are rare genetic conditions caused by the accumulation of metabolic substrates within cells. The oral medication miglustat was developed to treat these conditions by tackling the root cause of the buildup, offering a versatile therapeutic approach.

Affecting approximately 1 in 40,000 to 60,000 births, Gaucher disease is the most common lysosomal storage disorder, caused by a deficiency of the enzyme glucocerebrosidase (GCase). Understanding the specific therapeutic strategies for this genetic condition is essential for managing symptoms and improving quality of life, which is precisely how you treat glucocerebrosidase deficiency.

Initially developed by Genzyme and later acquired by Sanofi, venglustat is an investigational oral medication functioning as a substrate reduction therapy. This small-molecule compound has been explored for treating several rare lysosomal storage disorders, including Fabry and Gaucher disease, by targeting the synthesis of harmful glycosphingolipids.