Fabry Disease: Switch from Enzyme Replacement Therapy to Oral Chaperone Migalastat: What Do We Know Today?

• Published in: Healthcare (Basel) 2023-02, Vol.11 (4), p.449
• Main Authors: Perretta, Fernando, Jaurretche, Sebastián
• Format: Article
• Language: English
• Subjects: Biomarkers; Care and treatment; Diagnosis; Drug therapy; Enzymes; Fabry's disease; Genotype & phenotype; Health aspects; Medical screening; Mutation; Neurological disorders; Patients; Plasma
• ISSN: 2227-9032; 2227-9032
• DOI: 10.3390/healthcare11040449

Fabry disease is a lysosomal storage disorder caused by the deficiency of the α-galactosidase-A enzyme. The result is the progressive accumulation of complex glycosphingolipids and cellular dysfunction. Cardiac, renal, and neurological involvement significantly reduces life expectancy. Currently, there is increasing evidence that clinical response to treatment improves with early and timely initiation. Until a few years ago, treatment options for Fabry disease were limited to enzyme replacement therapy with agalsidase alfa or beta administered by intravenous infusion every 2 weeks. Migalastat (Galafold ) is an oral pharmacological chaperone that increases the enzyme activity of "amenable" mutations. The safety and efficacy of migalastat were supported in the phase III FACETS and ATTRACT studies, compared to available enzyme replacement therapies, showing a reduction in left ventricular mass, and stabilization of kidney function and plasma Lyso-Gb3. Similar results were confirmed in subsequent extension publications, both in patients who started migalastat as their first treatment and in patients who were previously on enzyme replacement therapy and switched to migalastat. In this review we describe the safety and efficacy of switching from enzyme replacement therapy to migalastat in patients with Fabry disease and "amenable" mutations, referring to publications available to date.