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May 11, 2026Molecular Genetics and Metabolism Reports0 citationsOpen Access

Effectiveness and tolerability of migalastat in adult Fabry disease: A single regional centre experience

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EMEamon P. McCarronRCRajkumar ChinnaduraiKSKarolina M. Stępień

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Abstract

Background: variants. Although efficacy has been demonstrated in clinical trials, long-term real-world data remain necessary, particularly in mixed groups of treatment-naïve and ERT-switch patients and genotype-phenotype subgroups. Methods: = 39). Demographic, genotypic, biochemical, renal, and cardiac parameters, and clinical outcomes were evaluated. Results: < 0.001) but remained within normal or only mildly prolonged limits. Sex-stratified analyses showed higher LVMI in males than females at baseline, with non-significant reductions in both groups over time. The incidence of non-fatal cardiovascular events was 81 and 43.5 per 1000 person-years in TN and TS groups, respectively. Six male patients (6.9%) experienced adverse events; five discontinued treatment, and one Fabry-related death occurred in the TN group. Conclusion: Migalastat was well tolerated and maintained stable renal and cardiac parameters with plasma lyso-Gb3 improvement. However, a subset of patients showed progression or intolerance, underscoring that variant amenability alone may not predict clinical benefit.

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McCarron et al. (2026) studied this question.

synapsesocial.com/papers/6a1b15285aeb978a24c2117dhttps://doi.org/10.1016/j.ymgmr.2026.101316
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