Fabry disease biomarkers in patients switched from enzyme-replacement therapy to migalastat oral chaperone therapy

Abstract

Background: A biomarker profile was evaluated longitudinally in patients with Fabry disease switched from enzyme-replacement therapy (ERT) to migalastat. Methods: 16 Gb₃ isoforms and eight lyso-Gb₃ analogues were analyzed in plasma and urine by LC-MS/MS at baseline and at three different time points in naive participants and participants switching from either agalsidase α or β to migalastat. Results: 29 adult participants were recruited internationally (seven centers). The Mainz Severity Score Index and mean biomarker levels remained stable (p ≥ 0.05) over a minimum of 12 months compared with baseline following the treatment switch. Conclusion: In this cohort of patients with Fabry disease with amenable mutations, in the short term, a switch from ERT to migalastat did not have a marked effect on the average biomarker profile.

Keywords: Fabry disease; analogues; biomarkers; globotriaosylceramide; globotriaosylsphingosine; migalastat; treatment switch.