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Review
. 2025 Jul 18;14(14):5131.
doi: 10.3390/jcm14145131.

Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review

Ana Jovanovic  1 , Eve Miller-Hodges  2 , Felicia Castriota  3 , Obaro Evuarherhe  4 , Olulade Ayodele  3 , Derralynn Hughes  5 , Guillem Pintos-Morell  6 , Roberto Giugliani  7 , Sandro Feriozzi  8 , Csaba Siffel  3   9
Affiliations
Review

Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review

Ana Jovanovic et al. J Clin Med. .

Abstract

Objectives: This systematic literature review aimed to identify studies assessing the clinical efficacy and real-world effectiveness of current and emerging treatments for Fabry disease. Methods: 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. Results: Of 1881 publications screened, 234 reported data on renal, cardiac, cerebrovascular, and disease severity outcomes from 225 studies. The majority of reported studies were observational in nature (n = 150; 67%) and involved only adults (n = 172; 74%). Study designs and patient populations were highly heterogeneous, and cross-study conclusions about the effectiveness of different therapies could not be made. Enzyme replacement therapy (ERT) with agalsidase alfa or agalsidase beta stabilized renal function and cardiac structure in patients with Fabry disease. Early initiation of ERT in childhood or young adulthood was associated with better renal and cardiac outcomes than treatment initiation at a later age. The small number of comparator studies of agalsidase alfa and agalsidase beta suggested similar efficacy. Patients treated with migalastat and pegunigalsidase alfa also maintained stable renal function and cardiac structure. Conclusions: Overall, current treatments slow the progression of renal and cardiac decline in patients with Fabry disease. Large cohort studies with long-term follow-up and baseline stratification based on clinical phenotype are needed to address evidence gaps and provide clinicians with robust data to inform treatment decisions.

Keywords: Fabry disease; agalsidase alfa; agalsidase beta; effectiveness; efficacy; lysosomal storage disease; migalastat.

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Conflict of interest statement

Ana Jovanovic has received honoraria for speaking and advisory boards from Amicus, Chiesi, Sanofi, and Takeda and research grants from Amicus and Takeda. Eve Miller-Hodges has received consultancy fees from Takeda and Amicus and speakers’ fees from Sanofi and Amicus. Felicia Castriota is an employee of Takeda Development Center Americas, Inc. and owns Takeda stock. Obaro Evuarherhe is an employee of Oxford PharmaGenesis Ltd. Olulade Ayodele is an employee of Takeda Development Center Americas, Inc. and owns Takeda stock. Derralynn Hughes has received honoraria for speaking and advisory boards from Amicus, Chiesi, Freeline, Idorsia, Sanofi, and Takeda. Guillem Pintos-Morell has received honoraria from Alexion, Amicus, Chiesi, Immedica, Lucane, Sanofi, Takeda, and Vitaflo and unrestricted grants from Sanofi and Takeda to the Vall d’Hebron Research Foundation for funding research on rare diseases. Roberto Giugliani has received consulting fees, honoraria for speaking and advisory boards, and/or research funding from Alexion, Alnylam Pharmaceuticals, Amicus Therapeutics, Astellas Pharma, Azafaros, BioMarin Pharmaceutical, Chiesi, JCR Pharmaceutical, Novartis, Paradigm BioPharmaceuticals, Passage Bio, Praxis Precision Medicines, PTC Therapeutics, Regenxbio, Sanofi, Takeda, and Ultragenyx. He is a member and the current chair of the Fabry Outcome Survey Steering Committee. Sandro Feriozzi has received honoraria for speaking and advisory boards from Amicus, Chiesi, Otsuka, Sanofi, and Takeda. Csaba Siffel is an employee of Takeda Development Center Americas, Inc. and owns Takeda stock.

Figures

Figure 1
Figure 1
PRISMA flow diagram for identified publications (initial and updated searches). PRISMA, Preferred Reporting Items for Systematic reviews and Meta-Analyses.
See this image and copyright information in PMC

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