Historical Control Analysis Demonstrates Greater Long-Term Reduction in Plasma Globotriaosylceramide (Gb3) by Venglustat Compared With Placebo or Agalsidase Beta in Male Patients With Classic Fabry Disease. [PDF]
Mol Genet Genomic MedABSTRACT Purpose To evaluate the disease biomarker response of venglustat in patients with Fabry disease (FD), utilizing data from a single‐arm phase 2 study of venglustat and a placebo‐controlled phase 3 study of agalsidase beta through historical control and case‐matched analyses. Methods Eleven venglustat‐treated male patients with classic FD in the
Germain DP +6 more
europepmc +2 more sources
Clinical heterogeneity in Fabry disease: A clinical case [PDF]
Ķazaķstannyṇ Klinikalyķ Medicinasy, 2023 Fabry disease is an orphan lysosomal storage disease characterized by progressive organ damage. Considering that the disease is rare, the low awareness of doctors about this pathology leads to late diagnosis of the disease and untimely pathogenetic ...
Assel Issabekova, Olga Mashkunova
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A Liquid Chromatography-Quadrupole-Time-of-Flight Mass Spectrometric Assay for the Quantification of Fabry Disease Biomarker Globotriaosylceramide (GB3) in Fabry Model Mouse [PDF]
Pharmaceutics, 2018 Fabry disease is a rare lysosomal storage disorder resulting from the lack of α-Gal A gene activity. Globotriaosylceramide (GB3, ceramide trihexoside) is a novel endogenous biomarker which predicts the incidence of Fabry disease.
Seok‐Ho Shin +12 more
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Renal globotriaosylceramide facilitates tubular albumin absorption and its inhibition protects against acute kidney injury [PDF]
Kidney International, 2019 Ivan Morace +13 more
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Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment [PDF]
Journal of Medical Genetics, 2017 Objective Deficiency of α-galactosidase A (αGal-A) in Fabry disease leads to the accumulation mainly of globotriaosylceramide (GL3) in multiple renal cell types.
Michael Mauer +6 more
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Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial. [PDF]
, 2015 Trial designThis analysis characterizes the degree of early organ involvement in a cohort of oligo-symptomatic untreated young patients with Fabry disease enrolled in an ongoing randomized, open-label, parallel-group, phase 3B clinical trial.MethodsMales
An Haack, Kristina +17 more
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Fabry nephropathy before and after enzyme replacement therapy: important role of renal biopsy in patients with Fabry disease [PDF]
Kidney Research and Clinical Practice, 2021 Background In Fabry disease, the presence of globotriaosylceramide (GL3) deposits in various kidney cells leads to progressive renal dysfunction. However, kidney biopsy studies in patients with Fabry disease are limited.
Il Young Kim +2 more
doaj +1 more source
Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies. [PDF]
J Inherit Metab DisABSTRACT This paper reviews biomarkers in lysosomal disease according to their categories and definitions. There are numerous biomarkers in lysosomal diseases. Some are disease or organ‐specific, but most are not. Organ‐specific biomarkers are especially useful, but most biomarkers help with diagnosis, assessing disease severity, prognosis, and ...
Schiffmann R.
europepmc +2 more sources
Catfish Egg Lectin Enhances the Cytotoxicity of Sunitinib on Gb3-Expressing Renal Cancer Cells
Biomedicines, 2023 Metastatic renal cell carcinoma (RCC) is not sufficiently responsive to anticancer drugs, and thus, developing new drugs for advanced RCC remains vital.
Jun Ito +4 more
doaj +1 more source