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Systematic Review

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

by
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 and
Csaba Siffel
3,9,*
1
The Mark Holland Metabolic Unit, Northern Care Alliance NHS Foundation Trust, Salford M6 8HD, UK
2
Centre for Cardiovascular Science, Queen’s Medical Research Institute, University of Edinburgh, Edinburgh EH16 4TJ, UK
3
Global Evidence and Outcomes, Data and Quantitative Sciences Institute, Takeda Development Center Americas, Inc., Cambridge, MA 02142, USA
4
Oxford PharmaGenesis Ltd., Tubney OX13 5QJ, UK
5
Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust, University College London, London WC1E 6BT, UK
6
Vall d’Hebron Institute of Research, Vall d’Hebron Barcelona Hospital Campus, MPS-Lisosomales Medical Committee, 08035 Barcelona, Spain
7
Department of Genetics, Federal University of Rio Grande do Sul (UFRGS), Medical Genetics Service, Hospital de Clinicas de Porto Alegre (HCPA), Dasa Genomics, and Casa dos Raros, Porto Alegre 90610-261, Brazil
8
Nephrology Department, University Campus Bio-Medico, University of Rome, 00128 Rome, Italy
9
College of Allied Health Sciences, Augusta University, Augusta, GA 30912, USA
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2025, 14(14), 5131; https://doi.org/10.3390/jcm14145131
Submission received: 23 May 2025 / Revised: 2 July 2025 / Accepted: 9 July 2025 / Published: 18 July 2025
(This article belongs to the Section Endocrinology & Metabolism)
Versions Notes

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 1901 publications screened, 247 reported data on renal, cardiac, cerebrovascular, and disease severity outcomes from 231 studies. The majority of reported studies were observational in nature (n = 154; 67%) and involved only adults (n = 176; 76%). 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: agalsidase alfa; agalsidase beta; efficacy; effectiveness; Fabry disease; lysosomal storage disease; migalastat agalsidase alfa; agalsidase beta; efficacy; effectiveness; Fabry disease; lysosomal storage disease; migalastat

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MDPI and ACS Style

Jovanovic, A.; Miller-Hodges, E.; Castriota, F.; Evuarherhe, O.; Ayodele, O.; Hughes, D.; Pintos-Morell, G.; Giugliani, R.; Feriozzi, S.; Siffel, C. Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review. J. Clin. Med. 2025, 14, 5131. https://doi.org/10.3390/jcm14145131

AMA Style

Jovanovic A, Miller-Hodges E, Castriota F, Evuarherhe O, Ayodele O, Hughes D, Pintos-Morell G, Giugliani R, Feriozzi S, Siffel C. Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review. Journal of Clinical Medicine. 2025; 14(14):5131. https://doi.org/10.3390/jcm14145131

Chicago/Turabian Style

Jovanovic, Ana, Eve Miller-Hodges, Felicia Castriota, Obaro Evuarherhe, Olulade Ayodele, Derralynn Hughes, Guillem Pintos-Morell, Roberto Giugliani, Sandro Feriozzi, and Csaba Siffel. 2025. "Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review" Journal of Clinical Medicine 14, no. 14: 5131. https://doi.org/10.3390/jcm14145131

APA Style

Jovanovic, A., Miller-Hodges, E., Castriota, F., Evuarherhe, O., Ayodele, O., Hughes, D., Pintos-Morell, G., Giugliani, R., Feriozzi, S., & Siffel, C. (2025). Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review. Journal of Clinical Medicine, 14(14), 5131. https://doi.org/10.3390/jcm14145131

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