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The guidance discusses clinical trial design features that can support approval of treatments of Fabry disease.
FDA published guidance on August 7, 2019 in support of the development of treatments for Fabry disease, a rare lysosomal storage disorder that causes gastrointestinal symptoms, slowly progressive organ damage, and early mortality. The guidance provides information on clinical trial design including patient eligibility criteria and efficacy endpoints.
According to FDA, Fabry disease is “a rare, X-linked, slowly progressive, lysosomal storage disorder caused by pathogenic variants (disease-causing mutations) in the galactosidase alpha (GLA) gene resulting in absent or deficient activity of the lysosomal enzyme α-galactosidase A (α-Gal A). The α-Gal A enzyme breaks down glycosphingolipids within lysosomes. α-Gal A deficient activity leads to progressive intralysosomal accumulation of the undegraded substrate globotriaosylceramide (GL-3, also known as Gb3), a glycosphingolipid.” The disease affects both males and females despite being X-linked; although, males experience the most severe symptoms.