ArticleFrontiers in genetics2026
Prevalence of migalastat-amenable variants in patients with Fabry disease from Brazil, Argentina, and Colombia: an observational study.
Article in Frontiers in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: Fabry disease is a progressive, X-linked lysosomal disorder caused by Methods: In this retrospective study, medical records were used to determine the prevalence of migalastat-amenable variants among individuals managed for Fabry disease at centers in Brazil, Argentina, and Colombia (primary endpoint). Demographic and clinical characteristics were explored using available data. Medical records of males or females of any age with a diagnosis of Fabry disease (based on genetic testing and/or α-Gal A enzymatic activity) were eligible for inclusion. Results: Data were collected for 1,196 individuals diagnosed with Fabry disease in Brazil (n = 1,000), Argentina (n = 122), and Colombia (n = 74); of these, 720 (60.2%) had migalastat-amenable Discussion: In those for whom data were available, there appeared to be both objective and subjective manifestations of Fabry disease, as evidenced by renal impairment, cardiac involvement, and classic Fabry disease signs and symptoms.
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