Renal and multisystem effectiveness of 3.9 years of migalastat in a global real‐world cohort: Results from the followME Fabry Pathfinders registry

作者：Derralynn Hughes, Gere Sunder–Plassmann, Ana Jovanović, Eva Brand, Michael L. West, Daniel G. Bichet, Antonio Pisani, Albina Nowak, Roser Torrá, Aneal Khan, Olga Azevedo, Anna Lehman, Aleš Linhart, Jasmine Rutecki, Joseph Giuliano, Eva Krusinska, Peter Nordbeck · 发表于：Journal of Inherited Metabolic Disease · 年份：2024 · DOI：10.1002/jimd.12771 · 被引用次数：19 · 研究领域：Lysosomal Storage Disorders Research、Carbohydrate Chemistry and Synthesis、Cellular transport and secretion

Abstract Fabry disease is a progressive, X‐linked lysosomal disorder caused by reduced or absent α‐galactosidase A activity due to GLA variants. The effects of migalastat were examined in a cohort of 125 Fabry patients with migalastat‐amenable GLA variants in the followME Pathfinders registry (EUPAS20599), an ongoing, prospective, patient‐focused registry evaluating outcomes for current Fabry disease treatments. We report annualised estimated glomerular filtration rate (eGFR) and Fabry‐associated clinical events (FACEs) in a cohort of patients who had received ≥3 years of migalastat treatment in a real‐world setting. As of August 2022, 125 patients (60% male) had a mean migalastat exposure of 3.9 years. At enrolment, median age was 58 years (males, 57; females, 60) with a mean eGFR of 83.7 mL/min/1.73 m 2 ( n = 122; males, 83.7; females, 83.8) and a median left ventricular mass index of 115.1 g/m 2 ( n = 61; males, 131.2; females, 98.0). Mean (95% confidence interval) eGFR annualised rate of change in the overall cohort ( n = 116) was −0.9 (−10.8, 9.9) mL/min/1.73 m 2 /year with a similar rate of change observed across patients with varying levels of kidney function at enrolment. Despite population age and baseline morbidity, 80% of patients did not experience a FACE during the mean 3.9 years of migalastat exposure. The incidence of renal, cardiac, and cerebrovascular events was 2.0, 83.2, and 4.1 events per 1000 patient‐years, respectively. These data support a role of migal...