Prevalence of migalastat-amenable variants in patients with Fabry disease from Brazil, Argentina, and Colombia: an observational study.

Sixty percent of individuals with Fabry disease in Brazil, Argentina, and Colombia have GLA variants that may respond to migalastat treatment.

• Why it matters: Identifying the prevalence of migalastat-amenable variants is crucial for expanding targeted therapy options for Fabry disease patients in Latin America, where treatment access and genetic data are limited.
• What they did: The study analyzed medical records of 1,196 diagnosed Fabry patients across three countries, determining that 720 (60.2%) carried migalastat-amenable GLA variants, with country-specific differences in variant types and median ages.
• The result: Findings suggest a substantial proportion of Fabry patients in these regions could benefit from migalastat, supporting the need for genetic screening and personalized treatment strategies in Latin American populations.