Impact of migalastat on cerebral outcomes in fabry disease - results from the prospective observational FAMOUS trial.

ABSTRACT:

Background

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A (GLA) gene, leading to an increased risk for white matter lesion (WML), stroke and cerebral microbleeds. Utilizing MRI data from the prospective observational FAMOUS study we assessed MRI characteristics of FD and treatment effects of migalastat.

Methods

19 patients with pathogenic (PV) and 14 patients with likely benign genetic variants (LBV: p.A143T, p.D313Y, and p.S126G) underwent MRI at baseline and 24 month-follow up under migalastat treatment. WML load, using Fazekas and Scheltens scores, basilar artery diameter (BAD), and the occurrence of strokes and cerebral microbleeds were assessed. Patients were compared by variant type (PV/LBV) and presence of art

SUBMITTER: Choudhury M 

PROVIDER: S-EPMC12706964 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature