Tag: Fabry disease

Fabry disease is a rare, X-linked genetic disorder affecting approximately 1 in 40,000 to 60,000 males due to a deficient enzyme. Agalsidase alfa is an enzyme replacement therapy developed to address this deficiency, and its indication is the long-term treatment of Fabry disease by targeting its root cause.

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.

Over 1,000 disease-causing genetic variants have been identified in the *GLA* gene, leading to the rare inherited disorder known as Fabry disease. A targeted, oral treatment for this condition is **migalastat**, which is used to treat adults with specific, responsive mutations.

According to a 2024 publication, approximately 1 in 40,000 to 170,000 live births are affected by Fabry disease. In adults with this rare genetic disorder, treatment often involves specialized therapies, and understanding what is Elfabrio for and its mechanism is a crucial part of managing the condition.

Fabry disease, a rare genetic disorder, affects an estimated 1 in 40,000 males in the US. For certain adults with this condition, a key question is: **what does Galafold do?** This oral medication works by stabilizing a specific enzyme to help manage the disease.

Fabry disease affects up to 1 in 40,000 births, and for a specific subset of these patients, Migalastat, marketed as Galafold, offers a targeted therapeutic option. This oral medication functions as a pharmacological chaperone, addressing the root cause of the disorder in individuals with certain genetic mutations by stabilizing their own deficient enzyme.