Oral chaperone therapy migalastat for treating Fabry disease: enzymatic response and serum biomarker changes after one year.

Long-term effects of migalastat therapy in clinical practice are currently unknown. We evaluated migalastat efficacy and biomarker changes in a prospective, single-center study on 14 patients with Fabry disease (55±14 years, 11 male). After one year of open-label migalastat therapy, patients showed significant changes in alpha-galactosidase-A activity (0.06 to 0.2 nmol/min/mg protein;p=0.001), left ventricular myocardial mass index (137 to 130 g/m²;p=0.037), and serum creatinine (0.94 to 1.0 mg/dL;p=0.021), accounting for deterioration in estimated glomerular filtration rate (87 to 78 mL/min/1.73 m²;p=0.012). The enzymatic increase correlated with myocardial mass reduction (r=-0.546;p=0.044), but not with renal function (r=-0.086;p=0.770). Plasma globotriaosylsphingosine was reduced in therapy-naive patients (10.9 to 6.0 ng/mL;p=0.021), and stable (9.6 to 12.1 ng/mL;p=0.607) in patients switched from prior enzyme replacement therapy. These first real-world data show that migalastat substantially increases alpha-galactosidase-A activity, stabilizes related serum biomarkers, and improves cardiac integrity in male and female patients with amenable Fabry disease mutations. This article is protected by copyright. All rights reserved.