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In 2016, a systematic review and a meta-analysis of existing data on the effects of switch from agalsidase beta to alfa in patients with Fabry disease showed that the switch was well tolerated and associated with stable disease progression. However, additional evidence that supports the need for an update of the review on the long-term effects of switching to agalsidase alfa, with a mention on the effects of reswitch to agalsidase beta, has emerged. Relevant papers were identified on PubMed, Cochrane, ISI Web, and Scopus databases from September 2015 to December 2021. Analyzed parameters were clinical events, changes in organ function or structure, disease related symptoms, lyso-globotriasolylceramide 3 (lyso-Gb3) plasma levels, presence of antidrug antibodies, and adverse effects. In total, 15 publications were evaluated, with a total of 353 subjects. The results of the review confirmed some points of the previous analysis with some new important information. After the switch from agalsidase beta to alfa, an increased number of clinical events, a significant loss of renal function, and an increase in lyso-Gb3 levels were reported; conversely, lyso-Gb3 levels decreased after the switch from agalsidase alfa to beta. The results confirm the importance of dose and recommend that patients be monitored through intensified surveillance, including lyso-Gb3 levels every 6 months.
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http://dx.doi.org/10.1016/j.gimo.2023.100805 | DOI Listing |
Orphanet J Rare Dis
August 2025
Amicus Therapeutics, Inc., Princeton, NJ, USA.
Background: Fabry disease (FD) is a rare inherited X-linked lysosomal disorder caused by the deficiency or dysfunction of the enzyme α-galactosidase. This leads to a detrimental accumulation of globotriaosylceramide (Gb3) within multiple cell types. Enzyme replacement therapies (ERTs), including agalsidase alfa and agalsidase beta, can diminish Gb3 levels.
View Article and Find Full Text PDFOrphanet J Rare Dis
August 2025
Department of Nephrology, Institute of Nephrology, Ruijin Hospital, The Medical School of Shanghai Jiao Tong University, No. 197 Ruijin Er Road, Shanghai, China.
Background: This is the first phase 4 study evaluating safety and efficacy of enzyme replacement therapy (ERT) in Chinese patients with Fabry disease, and exploring the impact of COVID-19 infection on the prognosis of Fabry disease under ERT.
Methods And Results: Eligible patients received an infusion of agalsidase beta (1.0 mg/kg/2w) for up to 48 weeks.
J Clin Med
July 2025
Global Evidence and Outcomes, Data and Quantitative Sciences Institute, Takeda Development Center Americas, Inc., Cambridge, MA 02142, USA.
This systematic literature review aimed to identify studies assessing the clinical efficacy and real-world effectiveness of current and emerging treatments for Fabry disease. Searches of the MEDLINE, EMBASE, and Cochrane library databases, as well as relevant congress proceedings, were conducted to identify publications reporting on studies in patients of any age, sex, race, or ethnicity who received any approved or experimental treatment for Fabry disease, published before 17 June 2024. Of 1881 publications screened, 234 reported data on renal, cardiac, cerebrovascular, and disease severity outcomes from 225 studies.
View Article and Find Full Text PDFOrphanet J Rare Dis
July 2025
Division of Nephrology, Department of Internal Medicine, Korea University College of Medicine, Seoul, South Korea.
Background: Fabry disease (FD) is an X-linked lysosomal storage disease caused by a mutation of the gene that encodes the α-galactosidase A enzyme. Treatment for FD is based on an enzyme replacement therapy (ERT), such as agalsidase-β, agalsidase-α, and migalastat. However, studies analyzing effects and outcomes of ERT in FD patients in South Korea are limited.
View Article and Find Full Text PDFJ Clin Med
June 2025
Department of Clinical, Internal, Anaesthesiology and Cardiovascular Sciences, Sapienza University of Rome, 00161 Rome, Italy.
The hypertrophic cardiomyopathy (HCM) clinical phenotype includes sarcomeric HCM, which is the most common form of inherited cardiomyopathy with a population prevalence of 1:500, and phenocopies such as cardiac amyloidosis and Anderson-Fabry disease, which are considered rare diseases. Identification of cardiac and non-cardiac red flags in the context of multi-organ syndrome, multimodality imaging, including echocardiography, cardiac magnetic resonance, and genetic testing, has a central role in the diagnostic pathway. Identifying the specific disease underlying the hypertrophic phenotype is very important since many disease-modifying therapies are currently available, and phase 3 trials for new treatments have been completed or are ongoing.
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