Dataset Information

CD77 levels over enzyme replacement treatment in Fabry Disease Family (V269M).

ABSTRACT: INTRODUCTION:Fabry disease (FD) is a disorder caused by mutations in the gene encoding for lysosomal enzyme ?-galactosidase A (?-GAL). Reduced ?-GAL activity leads to progressive accumulation of globotriaosylceramide (Gb3), also known as CD77. The recent report of increased expression of CD77 in blood cells of patients with FD indicated that this molecule can be used as a potential marker for monitoring enzyme replacement therapy (ERT). OBJECTIVE:The purpose of this study was to evaluate the CD77 levels throughout ERT in FD patients (V269M mutation). METHODS:We evaluated the fluctuations in PBMC (peripheral blood mononuclear cell) membrane CD77 expression in FD patients undergoing ERT and correlated these levels with those observed in different cell types. RESULTS:A greater CD77 expression was found in phagocytes of patients compared to controls at baseline. Interestingly, the variability in CD77 levels is larger in patients at baseline (340 - 1619 MIF) and after 12 months of ERT (240 - 530 MIF) compared with the control group (131 - 331 MFI). Furthermore, by analyzing the levels of CD77 in phagocytes from patients throughout ERT, we found a constant decrease in CD77 levels. CONCLUSION:The increased CD77 levels in the phagocytes of Fabry carriers together with the decrease in CD77 levels throughout ERT suggest that measuring CD77 levels in phagocytes is a promising tool for monitoring the response to ERT in FD.

SUBMITTER: Pereira EM

PROVIDER: S-EPMC6534003 | biostudies-literature | 2018 Oct-Dec

REPOSITORIES: biostudies-literature

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CD77 levels over enzyme replacement treatment in Fabry Disease Family (V269M).

Pereira Ester Miranda EM Silva Adalberto Socorro da ASD Silva Raimundo Nonato da RND Monte Neto José Tiburcio JT Nascimento Fernando F do FFD Sousa Jackeline L M JLM Costa Filho Henrique César Saraiva de Arêa Leão HCSAL Sales Filho Herton Luiz Alves HLA Labilloy Anatalia A Monte Semiramis Jamil Hadad do SJHD

Jornal brasileiro de nefrologia 20180604 4

<h4>Introduction</h4>Fabry disease (FD) is a disorder caused by mutations in the gene encoding for lysosomal enzyme α-galactosidase A (α-GAL). Reduced α-GAL activity leads to progressive accumulation of globotriaosylceramide (Gb3), also known as CD77. The recent report of increased expression of CD77 in blood cells of patients with FD indicated that this molecule can be used as a potential marker for monitoring enzyme replacement therapy (ERT).<h4>Objective</h4>The purpose of this study was to e ...[more]

PMID: 29927462

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Project description:Outcomes from 5 years of treatment with agalsidase alfa enzyme replacement therapy (ERT) for Fabry disease in patients enrolled in the Fabry Outcome Survey (FOS) were compared with published findings for untreated patients with Fabry disease. Data were extracted from FOS, a Shire-sponsored database, for comparison with data from three published studies. Outcomes evaluated were the annualized rate of change in estimated glomerular filtration rate (eGFR) and left ventricular mass indexed to height (LVMI) as well as time to and ages at a composite morbidity endpoint and at death. FOS data were extracted for 740 treated patients who were followed for a median of ~ 5 years. Compared with no treatment, patients treated with agalsidase alfa demonstrated slower decline in renal function and slower progression of left ventricular hypertrophy. Treated male patients with baseline eGFR < 60 mL/min/1.73 m(2) had a mean (standard error of the mean [SEM]) annualized change in eGFR of - 2.86 (0.53) mL/min/1.73 m(2)/y compared with - 6.8 (1.5) in the published untreated cohort. The mean (SEM) rate of LVMI increase with treatment was 0.33 (0.10) g/m(2.7)/y in males and 0.48 (0.09) in females, compared with 4.07 (1.03) in untreated males and 2.31 (0.81) in untreated females. Morbidity occurred later in treated patients, with ~ 16% risk of a composite morbidity event (26% in males) after 24 months with ERT versus ~ 45% without treatment, with first events and deaths also occurring at older ages in patients administered ERT (e.g., estimated median survival in treated males was 77.5 years versus 60 years in untreated males). Findings from these retrospective comparisons of observational data and published literature support the long-term benefits of ERT with agalsidase alfa for Fabry disease in slowing the progression of renal impairment and cardiomyopathy. Treatment also appeared to delay the onset of morbidity and mortality. Interpretation of these findings should take into account that they are based on retrospective comparisons with previously published data.

Dataset Information

CD77 levels over enzyme replacement treatment in Fabry Disease Family (V269M).

Publications

CD77 levels over enzyme replacement treatment in Fabry Disease Family (V269M).

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