Page 26 - Read Online
P. 26

Page 351               Giliberti et al. J Transl Genet Genom 2024;8:340-54  https://dx.doi.org/10.20517/jtgg.2024.41

               Financial support and sponsorship
               None.


               Conflicts of interest
               Gesualdo L received grant support from Abionyx and Sanofi to his university department (DIMEPRE-1); he
               has been a member of advisory boards for AstraZeneca, Baxter, Chinook, GSK, Mundipharma, Novartis,
               Pharmadoc, Roche, Sanofi, Travere, and Vifor Pharma, and invited speaker at meetings supported by
               AstraZeneca, Astellas, Estor, Takeda, Amicus, Fresenius, Werfen, Medtronic, Travere, and GSK. Giliberti M
               has been a member of advisory boards for BioCryst and Kyowa Kirin and was invited speaker at meetings
               supported by Sanofi, Takeda, Amicus, Kyowa Kirin, Alnylam, Chiesi, and AstraZeneca. The other authors
               have declared that they have no conflicts of interest.


               Ethical approval and consent to participate
               Not applicable.


               Consent for publication
               Not applicable.


               Copyright
               © The Author(s) 2024.


               REFERENCES
               1.       Askari H, Kaneski CR, Semino-Mora C, et al. Cellular and tissue localization of globotriaosylceramide in Fabry disease. Virchows
                   Arch 2007;451:823-34.  DOI
               2.       Amodio F, Caiazza M, Monda E, et al. An overview of molecular mechanisms in Fabry disease. Biomolecules 2022;12:1460.  DOI
                   PubMed  PMC
               3.       Desnick RJ. Chapter 38 - Fabry disease: α-galactosidase a deficiency; In: Rosenberg’s molecular and genetic basis of neurological and
                   psychiatric disease, 5th edition; 2015. pp. 419-30.  DOI
               4.       Schiffmann R, Hughes DA, Linthorst GE, et al. Screening, diagnosis, and management of patients with Fabry disease: conclusions
                   from a “Kidney disease: improving global outcomes” (KDIGO) controversies conference. Kidney Int 2017;91:284-93.  DOI
               5.       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.  DOI
               6.       Germain DP, Altarescu G, Barriales-Villa R, et al. An expert consensus on practical clinical recommendations and guidance for
                   patients with classic Fabry disease. Mol Genet Metab 2022;137:49-61.  DOI
               7.       Arends M, Wanner C, Hughes D, et al. Characterization of classical and nonclassical Fabry disease: a multicenter study. J Am Soc
                   Nephrol 2017;28:1631-41.  DOI  PubMed  PMC
               8.       Ramaswami U, Beck M, Hughes D, et al. Cardio- renal outcomes with long- term agalsidase alfa enzyme replacement therapy: a 10-
                   year Fabry outcome survey (FOS) analysis. Drug Des Devel Ther 2019;13:3705-15.  DOI  PubMed  PMC
               9.       Bichet DG, Torra R, Wallace E, et al. Long-term follow-up of renal function in patients treated with migalastat for Fabry disease. Mol
                   Genet Metab Rep 2021;28:100786.  DOI
               10.      Johnson FK, Mudd PN Jr, Bragat A, Adera M, Boudes P. Pharmacokinetics and safety of migalastat HCl and effects on agalsidase
                   activity in healthy volunteers. Clin Pharmacol Drug Dev 2013;2:120-32.  DOI  PubMed
               11.      Lerario S, Monti L, Ambrosetti I, et al. Fabry disease: a rare disorder calling for personalized medicine. Int Urol Nephrol
                   2024;56:3161-72.  DOI  PubMed  PMC
               12.      Schiffmann R, Goker-Alpan O, Holida M, et al. Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry
                   disease, provides sustained plasma concentrations and favorable pharmacodynamics: a 1-year Phase 1/2 clinical trial. J Inherit Metab
                   Dis 2019;42:534-44.  DOI
               13.      Cox TM. Innovative treatments for lysosomal diseases. Best Pract Res Clin Endocrinol Metab 2015;29:275-311.  DOI  PubMed
               14.      Platt FM, Jeyakumar M. Substrate reduction therapy. Acta Paediatr 2008;97:88-93.  DOI  PubMed
               15.      Medin JA, Tudor M, Simovitch R, et al. Correction in trans for Fabry disease: expression, secretion and uptake of alpha-galactosidase
                   A in patient-derived cells driven by a high-titer recombinant retroviral vector. Proc Natl Acad Sci USA 1996;93:7917-22.  DOI
                   PubMed  PMC
               16.      Takenaka T, Qin G, Brady RO, Medin JA. Circulating alpha-galactosidase A derived from transduced bone marrow cells: relevance
                   for corrective gene transfer for Fabry disease. Hum Gene Ther 1999;10:1931-9.  DOI  PubMed
   21   22   23   24   25   26   27   28   29   30   31