Prevalence of migalastat-amenable variants in patients with Fabry disease from Brazil, Argentina, and Colombia: an observational study.
8 affiliations
- 1Neurology Department, SPINE Fundation, Buenos Aires, Argentina.
- 2San Ignacio University Hospital, Bogotá, Colombia.
- 3Federal University of São Paulo, São Paulo, Brazil.
- 4State University of Rio de Janeiro, Rio de Janeiro, Brazil.
- 5Amicus Therapeutics UK Ltd., Marlow, United Kingdom.
- 6BioMarin Pharmaceutical Inc., Novato, CA, United States.
- 7Amicus Therapeutics Inc., Princeton, NJ, United States.
- 8BioMarin UK Ltd., London, United Kingdom.
Abstract
Introduction
Fabry disease is a progressive, X-linked lysosomal disorder caused by GLA variants that result in dysfunctional α-galactosidase A (α-Gal A) enzyme. One treatment option is migalastat, an oral small-molecule pharmacological chaperone treatment for patients with migalastat-amenable GLA variants.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 GLA variants (650 [65.0%] patients in Brazil, 32 [26.2%] in Argentina, and 38 [51.4%] in Colombia). The migalastat-amenable variants differed by country with little overlap among the cohorts in Brazil, Argentina, and Colombia in the most common variants. Median age (in years) at the study reference date (July 1, 2021) for individuals with migalastat-amenable variants was 45.6, 44.1, and 21.8 years in Brazil, Argentina, and Colombia, respectively. Data on clinical characteristics were available only in Argentina and Colombia.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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BibTeX
@article{politei2026prevalence,
title = {{Prevalence of migalastat-amenable variants in patients with Fabry disease from Brazil, Argentina, and Colombia: an observational study.}},
author = {Juan Manuel Politei and Ana María Zarante Bahamón and Ana Maria Martins and Afrânio Souza De Melo and Marcelo Horacio de Sa Pereira and Andréia Loures-Vale and Biliana O Veleva-Rotse and Eva Krusinska and Valerie Lengoc},
journal = {Frontiers in genetics},
year = {2026},
month = oct,
doi = {10.3389/fgene.2026.1876053},
url = {https://europepmc.org/article/MED/42898486},
note = {CC BY},
}
RIS
TY - JOUR
TI - Prevalence of migalastat-amenable variants in patients with Fabry disease from Brazil, Argentina, and Colombia: an observational study.
AU - Juan Manuel Politei
AU - Ana María Zarante Bahamón
AU - Ana Maria Martins
AU - Afrânio Souza De Melo
AU - Marcelo Horacio de Sa Pereira
AU - Andréia Loures-Vale
AU - Biliana O Veleva-Rotse
AU - Eva Krusinska
AU - Valerie Lengoc
PY - 2026
DA - 2026/10/05
JO - Frontiers in genetics
DO - 10.3389/fgene.2026.1876053
UR - https://europepmc.org/article/MED/42898486
AB - Introduction Fabry disease is a progressive, X-linked lysosomal disorder caused by GLA variants that result in dysfunctional α-galactosidase A (α-Gal A) enzyme. One treatment option is migalastat, an oral small-molecule pharmacological chaperone treatment for patients with migalastat-amenable GLA variants.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 GLA variants (650 [65.0%] patients in Brazil, 32 [26.2%] in Argentina, and 38 [51.4%] in Colombia). The migalastat-amenable variants differed by country with little overlap among the cohorts in Brazil, Argentina, and Colombia in the most common variants. Median age (in years) at the study reference date (July 1, 2021) for individuals with migalastat-amenable variants was 45.6, 44.1, and 21.8 years in Brazil, Argentina, and Colombia, respectively. Data on clinical characteristics were available only in Argentina and Colombia.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.
SN - 1664-8021
ER -