Patrick B Deegan, Ozlem Goker-Alpan, Tarekegn Geberhiwot, Robert J Hopkin, Elena Lukina, Anna Tylki-Szymanska, Atef Zaher, Charlotte Sensinger, Sebastiaan J M Gaemers, Vijay Modur, Beth L Thurberg, Jyoti Sharma, Behzad Najafian, Michael Mauer, Pronabesh DasMahapatra, William R Wilcox, Dominique P Germain
Venglustat inhibits the enzymatic conversion of ceramide to glucosylceramide, reducing available substrate for the synthesis of more complex glycosphingolipids. It offers a potential new approach to the treatment of patients with Fabry disease (α-Gal A deficiency), in whom progressive accumulation of such glycosphingolipids, including globotriaosylceramide (GL-3), in the lysosomes of a wide range of cell types often leads to vital organ complications in adulthood. An international, open-label, single-arm, Phase 2a uncontrolled 26-week clinical study (NCT02228460) and a 130-week extension study (NCT02489344) were conducted to assess the safety, pharmacodynamics, pharmacokinetics, and exploratory efficacy of 15 mg once daily oral venglustat in treatment-naïve adult male patients with classic Fabry disease...
November 9, 2022: Molecular Genetics and Metabolism