GALAFOLD

Galafold is a first in class 1 oral pharmacological chaperone that selectively and reversibly binds to the body's own dysfunctional enzyme, stabilising it and facilitating its proper trafficking to the lysosome. 1 Once within the lysosome, dissociation of Galafold restores lysosomal activity of the enzyme α-galactosidase A (α-Gal A), leading to reduction in disease substrates. 2... Galafold is indicated for long-term treatment of adults and adolescents aged 12 years and older with a confirmed diagnosis of Fabry disease and who have an amenable mutation. 2 As there have been a significant number of mutations identified to date, 2 it is essential that amenable mutations can be accurately identified so that the relevant patients with a confirmed diagnosis of Fabry disease may be treated. Identifying which GLA mutations are amenable to Galafold is determined using the Galafold Amenability Assay... Amenable GLA mutations are those expected to result in α-Gal A enzymes that can be bound..

Primary location: Marlow United Kingdom