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

IF 4.2 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM
Derralynn A Hughes, Gere Sunder-Plassmann, Ana Jovanovic, Eva Brand, Michael L West, Daniel G Bichet, Antonio Pisani, Albina Nowak, Roser Torra, Aneal Khan, Olga Azevedo, Anna Lehman, Aleš Linhart, Jasmine Rutecki, Joseph D Giuliano, Eva Krusinska, Peter Nordbeck
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引用次数: 0

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 m2 (n = 122; males, 83.7; females, 83.8) and a median left ventricular mass index of 115.1 g/m2 (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 m2/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 migalastat in preserving renal function and multisystem effectiveness during ≥3 years of migalastat treatment in this real-world Fabry population.

在全球实际队列中使用 3.9 年的米加司他对肾脏和多系统的疗效:来自 followME 法布里开拓者登记处的结果。
法布里病是一种进行性X连锁溶酶体疾病,由GLA变体导致的α-半乳糖苷酶A活性降低或缺失引起。我们在followME Pathfinders登记处(EUPAS20599)的125名法布里病患者队列中研究了米格拉司特的作用,这些患者都患有可被米格拉司特激活的GLA变异体,该登记处是一个正在进行的、前瞻性的、以患者为中心的登记处,旨在评估目前法布里病的治疗效果。我们报告了在真实世界中接受过≥3年米格司他治疗的患者队列的年估计肾小球滤过率(eGFR)和法布里相关临床事件(FACE)。截至2022年8月,125名患者(60%为男性)平均接受了3.9年的米加司他治疗。入组时,中位年龄为58岁(男性57岁;女性60岁),平均eGFR为83.7 mL/min/1.73 m2(n=122;男性83.7;女性83.8),中位左心室质量指数为115.1 g/m2(n=61;男性131.2;女性98.0)。总体队列(n = 116)的平均(95% 置信区间)eGFR 年化变化率为 -0.9 (-10.8, 9.9) mL/min/1.73 m2/年,入组时肾功能水平不同的患者的变化率相似。尽管人口年龄和基线发病率较高,但80%的患者在平均3.9年的米加司他暴露期内未出现FACE。肾脏、心脏和脑血管事件的发生率分别为每1000患者年2.0起、83.2起和4.1起。这些数据表明,在法布里患者中,米格司他可在≥3年的米格司他治疗期间起到保护肾功能和多系统有效性的作用。
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来源期刊
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease 医学-内分泌学与代谢
CiteScore
9.50
自引率
7.10%
发文量
117
审稿时长
4-8 weeks
期刊介绍: The Journal of Inherited Metabolic Disease (JIMD) is the official journal of the Society for the Study of Inborn Errors of Metabolism (SSIEM). By enhancing communication between workers in the field throughout the world, the JIMD aims to improve the management and understanding of inherited metabolic disorders. It publishes results of original research and new or important observations pertaining to any aspect of inherited metabolic disease in humans and higher animals. This includes clinical (medical, dental and veterinary), biochemical, genetic (including cytogenetic, molecular and population genetic), experimental (including cell biological), methodological, theoretical, epidemiological, ethical and counselling aspects. The JIMD also reviews important new developments or controversial issues relating to metabolic disorders and publishes reviews and short reports arising from the Society''s annual symposia. A distinction is made between peer-reviewed scientific material that is selected because of its significance for other professionals in the field and non-peer- reviewed material that aims to be important, controversial, interesting or entertaining (“Extras”).
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