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Data from: Enzyme replacement therapy and white matter hyperintensity progression in Fabry disease


Stefaniak, James D. et al. (2019), Data from: Enzyme replacement therapy and white matter hyperintensity progression in Fabry disease, Dryad, Dataset,


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; increasing total cholesterol associated with slower WMH progression) and a history of peripheral pain (p=0.02; peripheral pain associated with faster WMH progression) were independently associated with WMH change rate in the primary analysis. We did not find an association between ‘ERT at any point between baseline and final MRI’ and WMH change rate (p=0.22). Conclusions: In a large cohort of FD patients, we did not find an association between ERT and WMH progression, whilst higher total cholesterol was associated with slower WMH progression. Further research is needed into the pathogenesis and treatment of cerebrovascular disease in this rare condition.

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