Amelioration of white-matter lesions in a patient with Fabry disease

Yamadera, Misaki; Yokoe, Masaru; Beck, Goichi; Mihara, Masahito; Oe, Hiroshi; Yamamoto, Yoshihiko; Sakoda, Saburo

doi:10.1016/j.jns.2008.12.028

Cited by 9 publications

(5 citation statements)

References 12 publications

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“…In another OS publication (in three patients), urinary GL-3 remained normal throughout 18 months of follow-up [80]. In a CR, urinary GL-3 decreased after 12 months [99] (Supplementary Table 4).…”

Section: Resultsmentioning

confidence: 99%

“…In one CR of a male patient receiving agalsidase beta, treatment resulted in disappearance of most WMH [99], but another showed an increase in WMH (with full and lower dose) [84]. One MG OS publication (in 25 patients followed for a median of 27 months) showed that, in younger patients (age <50 years), WMH remained stable in 44% of patients treated with agalsidase beta compared with 31% of patients receiving placebo [162].…”

Section: Resultsmentioning

confidence: 99%

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The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

Germain

Elliott

Falissard

et al. 2019

Molecular Genetics and Metabolism Reports

139

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BackgroundEnzyme replacement therapy (ERT) with recombinant human α-galactosidase has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the USA. Treatment outcomes with ERT are dependent on baseline patient characteristics, and published data are derived from heterogeneous study populations.MethodsWe conducted a comprehensive systematic literature review of all original articles on ERT in the treatment of Fabry disease published up until January 2017. This article presents the findings in adult male patients.ResultsClinical evidence for the efficacy of ERT in adult male patients was available from 166 publications including 36 clinical trial publications. ERT significantly decreases globotriaosylceramide levels in plasma, urine, and in different kidney, heart, and skin cell types, slows the decline in estimated glomerular filtration rate, and reduces/stabilizes left ventricular mass and cardiac wall thickness. ERT also improves nervous system, gastrointestinal, pain, and quality of life outcomes.ConclusionsERT is a disease-specific treatment for patients with Fabry disease that may provide clinical benefits on several outcomes and organ systems. Better outcomes may be observed when treatment is started at an early age prior to the development of organ damage such as chronic kidney disease or cardiac fibrosis. Consolidated evidence suggests a dose effect. Data described in male patients, together with female and paediatric data, informs clinical practice and therapeutic goals for individualized treatment.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

Germain

Elliott

Falissard

et al. 2019

Molecular Genetics and Metabolism Reports

139

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“…A small, nonquantitative analysis of 8 patients, studied before and after ERT, suggested deep white matter lesions (WMLs) may precede neurologic events, 21 whereas a case report noted amelioration of WMLs in a single patient with FD in the context of ERT. 22 Furthermore, a longitudinal MRI analysis based on manual measurement of the WML diameters in 41 patients with FD suggested that these WMLs were more likely to remain stable in patients on ERT. 23 These data point to potential FD-specific mechanisms of WMH, which may in fact be affected by ERT, and are possibly explained by changes of the CNS resulting from lysosomal storage.…”

Section: -15mentioning

confidence: 99%

Determinants of white matter hyperintensity burden in patients with Fabry disease

et al. 2016

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Objective: Using a semiautomated volumetric MRI assessment method, we aimed to identify determinants of white matter hyperintensity (WMH) burden in patients with Fabry disease (FD).Methods: Patients with confirmed FD and brain MRI available for this analysis were eligible for this protocol after written consent. Clinical characteristics were abstracted from medical records. T2 fluid-attenuated inversion recovery MRI were transferred in electronic format and analyzed for WMH volume (WMHV) using a validated, computer-assisted method. WMHV was normalized for head size (nWMHV) and natural log-transformed (lnWMHV) for univariate and multivariate linear regression analyses. Level of significance was set at p , 0.05 for all analyses.Results: Of 223 patients with FD and WMHV analyzed, 132 (59%) were female. Mean age at MRI was 39.2 6 14.9 (range 9.6-72.7) years, and 136 (61%) patients received enzyme replacement therapy prior to enrollment. Median nWMHV was 2. Cerebrovascular disease, including stroke, is a significant source of morbidity in patients with Fabry disease (FD), an X-linked lysosomal storage disorder characterized by reduced activity of the enzyme a-galactosidase A.1 Burden of MRI-detectable white matter hyperintensity (WMH) has been linked to risk of stroke, 2 poor poststroke outcome, 3 and functional disability in aging adults 4 ; however, there are no systematic studies of WMH in patients with FD. Previously, nonquantitative studies have documented WMH lesions in adults with FD, 5,6 pediatric patients, 7 and the Fabry Outcome Survey registry participants. 8 A comparison of CT and MRI findings in patients with FD suggested the potential utility of a rating scale in this population. 9 The recently published Stroke in Young Fabry Patients (SIFAP1) study 10 showed detailed neuroimaging MRI characteristics including WMH assessed using a validated ordinal scale 11,12 ; however, it failed to identify any FD-specific MRI characteristics.

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“…In a case report by Yamadera et al -in a 27-year-old male patient with Fabry disease who had widespread white matter lesions, enzyme replacement therapy, comprising of biweekly infusions of alpha-galactosidase beta (1 mg/kg), for 12 months led to the disappearance of a majority of the white matter lesions; along with improvement in the cell counts and protein levels in the cerebrospinal fluid [46]. This suggests that enzyme replacement therapy might have a role in ameliorating cerebral vasculopathy in Fabry disease.…”

Section: Treatment and Prognosis Of Cerebrovascular Disease In Fabry mentioning

confidence: 97%

Stroke and Fabry Disease: A Review of Literature

Mishra¹,

Banerjee²,

Gandhi³

et al. 2020

Cureus

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Amelioration of white-matter lesions in a patient with Fabry disease

Cited by 9 publications

References 12 publications

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

Determinants of white matter hyperintensity burden in patients with Fabry disease

Stroke and Fabry Disease: A Review of Literature

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