Page 16 - Read Online

Page 10 of 11 Schiffmann. Rare Dis Orphan Drugs J 2024;3:4 https://dx.doi.org/10.20517/rdodj.2023.50

disease: 2 year results of the phase 3 randomized, double-blind, BALANCE study. Mol Genet Metab 2023;138:107351. DOI
52. Baba M, Shimbo T, Horio M, et al. Longitudinal study of the decline in renal function in healthy subjects. PLoS One
2015;10:e0129036. DOI PubMed PMC
53. McCambridge J, Witton J, Elbourne DR. Systematic review of the hawthorne effect: new concepts are needed to study research
participation effects. J Clin Epidemiol 2014;67:267-77. DOI PubMed PMC
54. Bernat J, Holida MD, Longo N, et al. Long-term safety and efficacy of pegunigalsidase alfa administered every 4 weeks in patients
with Fabry disease: Two-year interim results from the ongoing phase 3 BRIGHT51 open-label extension study. Mol Genet Metab
2023;138:107027. DOI
55. Wu YS, Khanna R, Schmith V, et al. Migalastat tissue distribution: extrapolation from mice to humans using pharmacokinetic
modeling and comparison with agalsidase beta tissue distribution in mice. Clin Pharmacol Drug Dev 2021;10:1075-88. DOI PubMed
PMC
56. Johnson FK, Valenzano K, Castelli J. Comparison of integrated white blood cell alpha-galactosidase a activity exposure between
every-other-day orally administered migalastat and biweekly infusions of agalsidase beta or agalsidase alfa. Mol Genet Metab
2016;117:S63. DOI
57. Müntze J, Gensler D, Maniuc O, et al. Oral Chaperone therapy migalastat for treating fabry disease: enzymatic response and serum
biomarker changes after 1 year. Clin Pharmacol Ther 2019;105:1224-33. DOI PubMed PMC
58. 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 PubMed
59. Gilchrist M, Casanova F, Tyrrell JS, et al. Prevalence of fabry disease-causing variants in the UK Biobank. J Med Genet 2023;60:391-
6. DOI PubMed PMC
60. Lavalle L, Thomas AS, Beaton B, et al. Phenotype and biochemical heterogeneity in late onset fabry disease defined by N215S
mutation. PLoS One 2018;13:e0193550. DOI PubMed PMC
61. Lenders M, Stappers F, Brand E. In vitro and in vivo amenability to migalastat in fabry disease. Mol Ther Methods Clin Dev
2020;19:24-34. DOI PubMed PMC
62. Modrego A, Amaranto M, Godino A, Mendoza R, Barra JL, Corchero JL. Human α-galactosidase a mutants: priceless tools to develop
novel therapies for fabry disease. Int J Mol Sci 2021;22:6518. DOI PubMed PMC
63. Bichet DG, Aerts JM, Auray-Blais C, et al. Assessment of plasma lyso-Gb for clinical monitoring of treatment response in migalastat-
3
treated patients with Fabry disease. Genet Med 2021;23:192-201. DOI PubMed PMC
64. 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. DOI PubMed PMC
65. Guérard N, Oder D, Nordbeck P, et al. Lucerastat, an iminosugar for substrate reduction therapy: tolerability, pharmacodynamics, and
pharmacokinetics in patients with fabry disease on enzyme replacement. Clin Pharmacol Ther 2018;103:703-11. DOI
66. Weiss AC. Idorsia announces the results of MODIFY, a Phase 3 study of lucerastat in Fabry disease. Available from: https://ml-eu.
globenewswire.com/Resource/Download/ba4842fd-18bd-4873-97d2-cd73bc3a7371 [Last accessed on 18 Jan 2024].
67. Shemesh E, Deroma L, Bembi B, et al. Enzyme replacement and substrate reduction therapy for Gaucher disease. Cochrane Database
Syst Rev 2015;2015:CD010324. DOI
68. 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. DOI PubMed PMC
69. Lakomá J, Rimondini R, Ferrer Montiel A, Donadio V, Liguori R, Caprini M. Increased expression of Trpv1 in peripheral terminals
mediates thermal nociception in Fabry disease mouse model. Mol Pain 2016;12:174480691666372. DOI PubMed PMC
70. Burlina AP, Sims KB, Politei JM, et al. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of
neuropathic pain: the report of an expert panel. BMC Neurol 2011;11:61. DOI PubMed
71. Kuzmin DA, Shutova MV, Johnston NR, et al. The clinical landscape for AAV gene therapies. Nat Rev Drug Discov 2021;20:173-4.
DOI
72. Rodríguez-Márquez E, Meumann N, Büning H. Adeno-associated virus (AAV) capsid engineering in liver-directed gene therapy.
Expert Opin Biol Ther 2021;21:749-66. DOI PubMed
73. Yasuda M, Huston MW, Pagant S, et al. AAV2/6 gene therapy in a murine model of fabry disease results in supraphysiological
enzyme activity and effective substrate reduction. Mol Ther Methods Clin Dev 2020;18:607-19. DOI PubMed PMC
74. Sharma A, Ghosh A, Hansen ET, Newman JM, Mohan RR. Transduction efficiency of AAV 2/6, 2/8 and 2/9 vectors for delivering
genes in human corneal fibroblasts. Brain Res Bull 2010;81:273-8. DOI PubMed PMC
75. Hopkin RJ, Ganesh J, Deegan P, et al. STAAR, a phase I/II study of isaralgagene civaparvovec (ST-920) gene therapy in adults with
Fabry disease: Dose escalation phase results. Mol Genet Metab 2023;138:107152. DOI
76. Romano R, Park H, Pios A, Brennan T, Selby MJ, Boyle K. Development of a B cell protein factory to produce sustained therapeutic
levels of alpha-galactosidase A for the treatment of Fabry disease. Mol Genet Metab 2023;138:107298. DOI
77. Schiffmann R, Goker-Alpan O, Vockley G, et al. Cardiac effects of 4D-310 in adults with fabry disease in a phase 1/2 clinical trial:
functional, quality of life, and imaging endpoints in patients with 12 months of follow up. Available from: https://www.cgtlive.com/
view/fabry-disease-gene-therapy-demonstrates-clinically-meaningful-improvements [Last accessed on 18 Jan 2024].