REFERENCES
2. Germain DP, Hughes DA, Nicholls K, et al. Treatment of Fabry’s disease with the pharmacologic chaperone migalastat. N Engl J Med. 2016;375:545-55.
3. Eng CM, Guffon N, Wilcox WR, et al.; International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry’s disease. N Engl J Med. 2001;345:9-16.
5. Warnock DG, Ortiz A, Mauer M, et al.; Fabry Registry. Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation. Nephrol Dial Transplant. 2012;27:1042-9.
6. Nordbeck P, Goker-Alpan O, Bernat JA, et al. Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extension. Nat Commun. 2026;17:1534.
7. Wanner C, Kimonis V, Politei J, et al. Understanding and modifying Fabry disease: rationale and design of a pivotal phase 3 study and results from a patient-reported outcome validation study. Mol Genet Metab Rep. 2022;31:100862.
8. Schiffmann R, Kopp JB, Austin HA 3rd, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA. 2001;285:2743-9.
9. Mistry PK, Balwani M, Charrow J, et al. Long-term effectiveness of eliglustat treatment: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry. Am J Hematol. 2024;99:1500-10.
10. Sanofi. Press release: Sanofi’s venglustat met all primary endpoints in a phase 3 study of type 3 Gaucher disease. Available from: https://www.sanofi.com/en/media-room/press-releases/2026/2026-02-02-06-00-00-3229947 [Last accessed on 20 Oct 2026].
11. Deegan PB, Goker-Alpan O, Geberhiwot T, et al. Venglustat, an orally administered glucosylceramide synthase inhibitor: assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study. Mol Genet Metab. 2023;138:106963.
12. Tifft CJ, Batsu I, Giugliani R, et al. Venglustat in GM2 gangliosidoses and related disorders: results of the AMETHIST randomized controlled and basket trials. Genet Med. 2026;28:101615.
13. Bichet DG, Aerts JM, Auray-Blais C, et al. Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease. Genet Med. 2021;23:192-201.
14. Shiga T, Tsukimura T, Kubota T, Togawa T, Sakuraba H. Profiles of globotriaosylsphingosine analogs and globotriaosylceramide isoforms accumulated in body fluids from various phenotypic Fabry patients. Intern Med. 2024;63:1531-7.
15. Aerts JM, Groener JE, Kuiper S, et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A. 2008;105:2812-7.
16. Jabbarzadeh-Tabrizi S, Boutin M, Day TS, et al. Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse model. J Lipid Res. 2020;61:1410-23.
17. Hughes DA, Pintos-Morell G, Kampmann C, et al. Long-term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry outcome survey. Eur J Clin Invest. 2026;56:e70142.
18. Hoffmann B, Beck M, Sunder-Plassmann G, Borsini W, Ricci R, Mehta A; FOS European Investigators. Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy--a retrospective analysis from the Fabry outcome survey. Clin J Pain. 2007;23:535-42.
