Background: Fabry disease is an X-linked inherited lysosomal storage disease that can be treated with the enzymes of agalsidase beta (Fabrazyme) and agalsidase alfa (Replagal). Since June 2009, viral contamination of Genzyme's production facility has resulted in a worldwide shortage of agalsidase beta, leading to the switch to agalsidase alfa for patients with Fabry disease in Taiwan.
Methods: The medical records were retrospectively reviewed for nine male patients with Fabry disease from the start of agalsidase beta treatment until the switch to agalsidase alfa for at least 1 year.
Results: After 12-112 months of enzyme replacement therapy (ERT), decreased plasma globotriaosylsphingosine (lyso-Gb3) was found in five out of seven patients, indicating improvement in disease severity. Among the six patients with available echocardiographic data at baseline and after ERT, all six experienced reductions of left ventricular mass index. Renal function, including microalbuminuria and estimated glomerular filtration rate, showed stability after ERT. Mainz Severity Score Index scores revealed that all nine patients remained stable at 12 months after switching to agalsidase alfa. ERT improved or stabilized cardiac status and stabilized renal function, while reducing plasma lyso-Gb3. ERT was well tolerated, even among the three patients who had hypersensitivity reactions.
Conclusion: The switch of ERT from agalsidase beta to agalsidase alfa appears to be safe after 1 year of follow-up for Taiwanese patients with Fabry disease.
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Effects of Current Therapies on Disease Progression in Fabry Disease: A Narrative Review for Better Patient Management in Clinical Practice.
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Cardiovascular Department, ASL8 Arezzo San Donato Hospital, Via Pietro Nenni 20, 52100, Arezzo, Italy.
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Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA.
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- Pegunigalsidase alfa is a new enzyme replacement therapy for Fabry disease, showing a longer half-life and administered every 4 weeks instead of the typical 2-week schedule.
- The BRIGHT study involved 30 adult patients who switched from another ERT to pegunigalsidase alfa, revealing good safety results with mostly mild side effects and no new anti-drug antibodies.
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2024 Update of the TSOC Expert Consensus of Fabry Disease.
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Division of Cardiology, Department of Internal Medicine, Min-Sheng General Hospital, Taoyuan.
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- Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene, leading to harmful buildup of glycosphingolipids in various tissues and classified into classic and late-onset phenotypes.
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Department of Endocrinology and Metabolism, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.
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- Fabry disease (FD) results from mutations in a specific gene that lead to a deficiency in the enzyme α-galactosidase A, causing harmful substrate accumulation, with symptoms varying widely between male and female patients.
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Comparative study on incorporation of three recombinant human α-galactosidase A drugs (agalsidases) into cultured fibroblasts and organs/tissues of Fabry mice.
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Department of Clinical Genetics, Meiji Pharmaceutical University, 2-522-1 Noshio, Kiyose, Tokyo, 204-8588, Japan.
Enzyme replacement therapy (ERT) with recombinant human α-galactosidase A (α-Gal A) drugs (agalsidases) has been successfully used for treatment of Fabry disease, and three kinds of agalsidases are now available in Japan. To compare the biochemical characteristics of these drugs, especially focusing on their incorporation into cultured fibroblasts and organs/tissues of Fabry mice, we performed in vitro, cell, and animal experiments. The results revealed that there were no differences in the kinetic parameters and enzyme activity between these agalsidases.
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