Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2025 Jan 21:11:1415547.
doi: 10.3389/fcvm.2024.1415547. eCollection 2024.

A systematic literature review to evaluate the cardiac and cerebrovascular outcomes of patients with Fabry disease treated with agalsidase Beta

Gavin Y Oudit  1   2 , Pronabesh DasMahapatra  3 , Nicole Lyn  3 , Florence R Wilson  4 , Adekemi Adeyemi  4 , Chae Sung Lee  3 , Ana Crespo  5 , Mehdi Namdar  6
Affiliations

A systematic literature review to evaluate the cardiac and cerebrovascular outcomes of patients with Fabry disease treated with agalsidase Beta

Gavin Y Oudit et al. Front Cardiovasc Med. .

Abstract

Background: Agalsidase beta is used to treat Fabry disease (FD); however, data on cardiac and cerebrovascular outcomes with agalsidase beta treatment come from studies with limited numbers of patients.

Methods: A systematic literature review of studies reporting on the efficacy and effectiveness of agalsidase beta in FD was conducted. Studies were identified in searches of MEDLINE, Embase, and the Cochrane Central Register of Controlled Trials from January 2000-June 2022. Outcomes of interest included cardiac structure and mass, cardiac events, and cerebrovascular events.

Results: Fifty-two citations (41 studies) were included. Reductions in interventricular septal thickness (IVST) and/or left ventricular posterior wall thickness (LVPWT) were demonstrated in six studies (follow-up 1-6 years, n = 4 using echocardiography, n = 2 cardiac MRI). IVST ranged from 12.1-14.9 mm at baseline and 10.8-14.1 mm at follow-up (all p < 0.05). LVPWT ranged from 11.7-16.0 mm at baseline and 10.7-13.0 mm at follow-up (all p < 0.05). Significant reductions in cardiac mass were demonstrated after 1 year of treatment in a single-arm study using cardiac MRI [left ventricular mass (LVM) 193-178 g; LVM index 102-94 g/m2; both p < 0.05]. Rates of composite cardiac events (3.8%-24.0%; four studies, follow-up 2-10 years) and cerebrovascular events (0.0%-18.9%; 12 studies, follow-up 1-10 years) were numerically lower than rates for placebo (follow-up 3 years).

Conclusion: Literature over the last 20 years indicates that agalsidase beta treatment may lead to stabilization or regression of cardiac structural thickness and mass, and reduction in cardiac and cerebrovascular events relative to placebo.

Keywords: Fabry disease; agalsidase beta; cardiac; cardiovascular; enzyme replacement therapy; genetic disorders.

PubMed Disclaimer

Conflict of interest statement

AC, PD, CL, and NL are employees and may hold stock and/or stock options in Sanofi. FW is an employee of PRECISIONheor which received funding from Sanofi. AA was an employee of PRECISIONheor, which received funding from Sanofi at the time the research took place and is now an employee of Nassau University Medical Center. Sanofi funded the study, the funder was involved in the following: medical writing support, study design, data collection and analysis. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision.

Figures

Figure 1
Figure 1
Study selection flow diagram (2000–2022). aIncludes conference abstracts and duplicate records; badditional studies identified through hand searches of key study references, or supplemental searches.
See this image and copyright information in PMC

References

    1. Germain DP. Fabry disease. Orphanet J Rare Dis. (2010) 5:30. 10.1186/1750-1172-5-30 - DOI - PMC - PubMed
    1. Pieroni M, Moon JC, Arbustini E, Barriales-Villa R, Camporeale A, Vujkovac AC, et al. Cardiac involvement in Fabry disease: JACC review topic of the week. J Am Coll Cardiol. (2021) 77(7):922–36. 10.1016/j.jacc.2020.12.024 - DOI - PubMed
    1. Mehta A, Clarke JT, Giugliani R, Elliott P, Linhart A, Beck M, et al. Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry outcome survey. J Med Genet. (2009) 46(8):548–52. 10.1136/jmg.2008.065904 - DOI - PubMed
    1. Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant. (2009) 24(7):2102–11. 10.1093/ndt/gfp031 - DOI - PMC - PubMed
    1. Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. (2018) 123(4):416–27. 10.1016/j.ymgme.2018.02.014 - DOI - PubMed

Publication types

LinkOut - more resources