Enzyme replacement therapy and white matter hyperintensity progression in Fabry disease

Objective: To explore the association between Enzyme Replacement Therapy (ERT), clinical characteristics and the rate of progression of White Matter Hyperintensities (WMHs) in Fabry disease (FD) patients. Methods: Patients with a confirmed diagnosis of FD, aged >18 years, participating in an existing FD observational study (NCT00196742), with at least two serial MRI brain scans at least 2 years apart for the period between December 2006 and August 2016 were included in this cohort study. Total WMH volume was estimated for each image using a semi-automated procedure. We performed linear regression to calculate the primary outcome measure of WMH change rate for each participant. Associations between ERT, clinical characteristics and the primary outcome were explored using multiple linear regression. Results: 863 MRI time-points were analysed for the 149 included participants. Age (p<0.0005; increasing age associated with faster WMH progression), total cholesterol (p=0.03; increasi...