Renal and multisystem effectiveness of 3.9 years of migalastat in a global real-world cohort

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), a...

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Detalhes bibliográficos
Autores: Hughes, Derralynn A.|||0000-0003-4531-9173, Sunder-Plassmann, Gere, Jovanovic, Ana, Brand, Eva, West, Michael L., Bichet, Daniel G., Pisani, Antonio, Nowak, Albina, Torra Balcells, Roser|||0000-0001-8714-2332, Khan, Aneal, Azevedo, Olga, Linhart, Aleš, Rutecki, Jasmine, Giuliano, Joseph D., Krusinska, Eva, Nordbeck, Peter
Formato: artículo
Fecha de publicación:2024
País:España
Recursos:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:307578
Acesso em linha:https://ddd.uab.cat/record/307578
https://dx.doi.org/urn:doi:10.1002/jimd.12771
Access Level:acceso abierto
Palavra-chave:Fabry disease
Migalastat
Real world evidence
Descrição
Resumo: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 migalastat in preserving renal function and multisystem effectiveness during ≥3 years of migalastat treatment in this real-world Fabry population.