YU Che, WANG Rong. Enzyme Replacement Therapy in the Treatment of Fabry Disease[J]. Journal of Rare Diseases, 2023, 2(3): 442-449. DOI: 10.12376/j.issn.2097-0501.2023.03.017
Citation: YU Che, WANG Rong. Enzyme Replacement Therapy in the Treatment of Fabry Disease[J]. Journal of Rare Diseases, 2023, 2(3): 442-449. DOI: 10.12376/j.issn.2097-0501.2023.03.017
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Enzyme Replacement Therapy in the Treatment of Fabry Disease

  • Department of Nephrology, Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, China

Funds: 

National Natural Science Foundation of China 81770723

Medical and Health Science and Technology Development Program of Shandong Province 202003051385

Medical and Health Science and Technology Development Program of Shandong Province 202004110804

Science and Technology Program of Jinan City in Shandong Province 202019124

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  • Corresponding author:

    WANG Rong, E-mail: wangrong@sdfmu.edu.cn

  • Received Date: May 11, 2023
  • Accepted Date: June 29, 2023
  • Available Online: September 08, 2023
2097-0501/©2023 Editorial Office of Journal of Rare Diseases This is an open access article under the CC BY-NC-ND license (https://creativecommons.org/licenses/by-nc-nd/4.0/)
    Graphical Abstract
    • Abstract

  • Fabry disease is an X-linked inherited lysosomal storage disease caused by the mutation of GLA gene that encodes α-galactosidase A (α-Gal A). GLA gene mutation causes the decline or deficiency in the activity of α-Gal A, leading to the accumulation of its substrates in the lysosomes of multiple organs and tissue that causes systemic damage and threatens the life of patients. Enzyme replacement therapy (ERT) is the standard of care for Fabry disease. ERT slows or prevents the progression of organ damage, effectively improving heart, brain, kidney functions and significantly improves quality of life. At present, there are two main ERT drugs, agalsidase alpha and agalsidase beta, which have the same amino acid sequence and different N-terminal sugars, and are used for the treatment of Fabry disease. In this paper, the efficacy and safety of ERT in the treatment of Fabry disease were summarized by reviewing the relevant literature at home and abroad and combining the results of some cases treated in Department of Nephrology, Provincial Hospital affiliated to Shandong First Medical University. Previous literature has shown that enzyme replacement therapy is the most important specific treatment for Fabry disease, which has a protective effect on important organs such as kidney, heart, and nervous system.

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    • References (61)
  • [1]
    Vardarli I, Rischpler C, Herrmann K, et al. Diagnosis and screening of patients with Fabry Disease[J]. Ther Clin Risk Manag, 2020, 16: 551-558. doi: 10.2147/TCRM.S247814
    [2]
    Linhart A, Germain DP, Olivotto I, et al. An expert consensus document on the management of cardiovascular manifestations of Fabry disease[J]. Eur J Heart Fail, 2020, 22(7): 1076-1096. doi: 10.1002/ejhf.1960
    [3]
    吕轶伦, 陈楠. 上海透析患者Fabry病酶筛查及突变α-gal分子构象研究[D]. 上海: 上海交通大学, 2008.
    [4]
    Fan Y, Chan TN, Chow JTY, et al. High prevalence of late-onset Fabry cardiomyopathy in a cohort of 499 non-selective patients with left ventricular hypertrophy: The Asian Fabry Cardiomyopathy High-Risk Screening Study (ASIAN-FAME)[J]. J Clin Med, 2021, 10(10): 2160. doi: 10.3390/jcm10102160
    [5]
    中国法布雷病专家协作组. 中国法布雷病诊疗专家共识(2021年版)[J]. 中华内科杂志, 2021, 60(4): 321-330. doi: 10.3760/cma.j.cn112138-20201218-01028
    [6]
    Hagege A, Reant P, Habib G, et al. Fabry disease in cardiology practice: Literature review and expert point of view[J]. Arch Cardiovasc Dis, 2019, 112(4): 278-287. doi: 10.1016/j.acvd.2019.01.002
    [7]
    Germain DP, Fouilhoux A, Decramer S, et al. Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients[J]. Clin Genet, 2019, 96(2): 107-117. doi: 10.1111/cge.13546
    [8]
    Lenders M, Brand E. Fabry disease: the current treatment landscape[J]. Drugs, 2021, 81(6): 635-645. doi: 10.1007/s40265-021-01486-1
    [9]
    Biegstraaten M, Arngrimsson R, Barbey F, et al. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document[J]. Orphanet J Rare Dis, 2015, 10: 36. doi: 10.1186/s13023-015-0253-6
    [10]
    Hopkin RJ, Jefferies JL, Laney DA, et al. The management and treatment of children with Fabry disease: A United States-based perspective[J]. Mol Genet Metab, 2016, 117(2): 104-113. doi: 10.1016/j.ymgme.2015.10.007
    [11]
    Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: Management and treatment recommendations for adult patients[J]. Mol Genet Metab, 2018, 123(4): 416-427. doi: 10.1016/j.ymgme.2018.02.014
    [12]
    Beck M, Ramaswami U, Hughes D, et al. Fabry Outcome Survey (FOS): demographics and survival analysis from a 20-year patient registry of Fabry disease[Z]. 14th International Congress of Inborn Errors of Metabolism. Sydney, Australia. 2021: 75.
    [13]
    于澈, 王荣. 法布雷病特异性治疗进展[J]. 中华内科杂志, 2022, 61(4): 426-432. doi: 10.3760/cma.j.cn112138-20220117-00053
    [14]
    Garman SC, Garboczi DN. The molecular defect leading to Fabry disease: structure of human alpha-galactosidase[J]. J Mol Biol, 2004, 337(2): 319-335. doi: 10.1016/j.jmb.2004.01.035
    [15]
    Mccafferty EH, Scott LJ. Migalastat: a review in Fabry disease[J]. Drugs, 2019, 79(5): 543-554. doi: 10.1007/s40265-019-01090-4
    [16]
    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 (FOX) analysis[J]. Drug Des Devel Ther, 2019, 13: 3705-3715. doi: 10.2147/DDDT.S207856
    [17]
    Anderson LJ, Wyatt KM, Henley W, et al. Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort study[J]. J Inherit Metab Dis, 2014, 37(6): 969-978. doi: 10.1007/s10545-014-9717-4
    [18]
    Ries M, Clarke JT, Whybra C, et al. Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease[J]. Pediatrics, 2006, 118(3): 924-932. doi: 10.1542/peds.2005-2895
    [19]
    路智红, 王晶晶, 余玲, 等. 法布里病患儿临床特点及酶替代治疗四例初探[J]. 中华儿科杂志, 2021, 59(4): 322-326. doi: 10.3760/cma.j.cn112140-20200902-00842
    [20]
    Lin HY, Huang YH, Liao HC, et al. Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa[J]. J Chin Med Assoc, 2014, 77(4): 190-197. doi: 10.1016/j.jcma.2013.11.006
    [21]
    Sasa H, Nagao M, Kino K. Safety and effectiveness of enzyme replacement therapy with agalsidase alfa in patients with Fabry disease: post-marketing surveillance in Japan[J]. Mol Genet Metab, 2019, 126(4): 448-459. doi: 10.1016/j.ymgme.2019.02.005
    [22]
    Choi JH, Cho YM, Suh KS, et al. Short-term efficacy of enzyme replacement therapy in Korean patients with Fabry disease[J]. J Korean Med Sci, 2008, 23(2): 243-250. doi: 10.3346/jkms.2008.23.2.243
    [23]
    Tang ASO, Wong QY, Pao LTI, et al. First 2 Fabry cases with novel mutation and their associated clusters in malaysia[J]. Am J Case Rep, 2021, 22: e932923.
    [24]
    李小雪, 刘小荣. 儿童法布里病的诊断及治疗进展[J]. 罕见病研究, 2022, 1(3): 352-358. doi: 10.12376/j.issn.2097-0501.2022.03.020
    [25]
    Beck M, Hughes D, Kampmann C, et al. Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: a Fabry outcome survey analysis[J]. Mol Genet Metab Rep, 2015, 3: 21-27. doi: 10.1016/j.ymgmr.2015.02.002
    [26]
    Banikazemi M, Bultas J, Waldek S, et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial[J]. Ann Intern Med, 2007, 146(2): 77-86. doi: 10.7326/0003-4819-146-2-200701160-00148
    [27]
    Germain DP, Charrow J, Desnick RJ, et al. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease[J]. J Med Genet, 2015, 52(5): 353-358. doi: 10.1136/jmedgenet-2014-102797
    [28]
    Beck M, Ricci R, Widmer U, et al. Fabry disease: overall effects of agalsidase alfa treatment[J]. Eur J Clin Invest, 2004, 34(12): 838-844. doi: 10.1111/j.1365-2362.2004.01424.x
    [29]
    Schwarting A, Dehout F, Feriozzi S, et al. Enzyme replacement therapy and renal function in 201 patients with Fabry disease[J]. Clin Nephrol, 2006, 66(2): 77-84.
    [30]
    Hughes DA, Barba RMA, HOLLAK CE, et al. Response of women with Fabry disease to enzyme replacement therapy: comparison with men, using data from FOS——the Fabry Outcome Survey[J]. Mol Genet Metab, 2011, 103(3): 207-214. doi: 10.1016/j.ymgme.2011.03.022
    [31]
    Mehta A, Beck M, Elliott P, et al. Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data[J]. Lancet, 2009, 374(9706): 1986-1996. doi: 10.1016/S0140-6736(09)61493-8
    [32]
    Feriozzi S, Schwarting A, Sunder-Plassmann G, et al. Agalsidase alfa slows the decline in renal function in patients with Fabry disease[J]. Am J Nephrol, 2009, 29(5): 353-361. doi: 10.1159/000168482
    [33]
    Parini R, Pintos-Morell G, Hennermann JB, et al. Analysis of renal and cardiac outcomes in male participants in the fabry outcome survey starting agalsidase alfa enzyme replacement therapy before and after 18 years of age[J]. Drug Des Devel Ther, 2020, 14: 2149-2158. doi: 10.2147/DDDT.S249433
    [34]
    Feriozzi S, Linhart A, Ramaswami U, et al. Effects of baseline left ventricular hypertrophy and decreased renal function on cardiovascular and renal outcomes in patients with fabry disease treated with agalsidase alfa: a fabry outcome survey study[J]. Clin Ther, 2020, 42(12): 2321-2330.e0. doi: 10.1016/j.clinthera.2020.10.007
    [35]
    Hughes D, Linhart A, Gurevich A, et al. Prompt agalsidase alfa therapy initiation is associated with improved renal and cardiovascular outcomes in a fabry outcome survey analysis[J]. Drug Des Devel Ther, 2021, 15: 3561-3572. doi: 10.2147/DDDT.S313789
    [36]
    Tahir H, Jackson LL, Warnock DG. Antiproteinuric therapy and fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta[J]. J Am Soc Nephrol, 2007, 18(9): 2609-2617. doi: 10.1681/ASN.2006121400
    [37]
    Germain DP, Waldek S, Banikazemi M, et al. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease[J]. J Am Soc Nephrol, 2007, 18(5): 1547-1557. doi: 10.1681/ASN.2006080816
    [38]
    Warnock DG, Thomas CP, Vujkovac B, et al. Antiprotei-nuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy[J]. J Med Genet, 2015, 52(12): 860-866. doi: 10.1136/jmedgenet-2015-103471
    [39]
    Beck M, Hughes D, Kampmann C, et al. Long-term outcomes with agalsidase alfa enzyme replacement therapy: analysis using deconstructed composite events[J]. Mol Genet Metab Rep, 2017, 14: 31-35.
    [40]
    Kampmann C, Linhart A, Baehner F, et al. Onset and progression of the Anderson-Fabry disease related cardiomyo-pathy[J]. Int J Cardiol, 2008, 130(3): 367-373. doi: 10.1016/j.ijcard.2008.03.007
    [41]
    Kampmann C, Perrin A, Beck M. Effectiveness of agalsi-dase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years' treatment[J]. Orphanet J Rare Dis, 2015, 10: 125. doi: 10.1186/s13023-015-0338-2
    [42]
    Wanner C, Feldt-Rasmussen U, Jovanovic A, et al. Cardiomyopathy and kidney function in agalsidase beta-treated female Fabry patients: a pre-treatment vs. post-treatment analysis[J]. ESC Heart Fail, 2020, 7(3): 825-834. doi: 10.1002/ehf2.12647
    [43]
    Germain DP, Weidemann F, Abiose A, et al. Analysis of left ventricular mass in untreated men and in men treated with agalsidase-beta: data from the Fabry Registry[J]. Genet Med, 2013, 15(12): 958-965. doi: 10.1038/gim.2013.53
    [44]
    Schiffmann R, Kopp JB, Austin HA, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial[J]. JAMA, 2001, 285(21): 2743-2749. doi: 10.1001/jama.285.21.2743
    [45]
    Hoffmann B, Schwarz M, Mehta A, et al. Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy[J]. Clin Gastroenterol Hepatol, 2007, 5(12): 1447-1453. doi: 10.1016/j.cgh.2007.08.012
    [46]
    Whybra C, Kampmann C, Krummenauer F, et al. The mainz severity score index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy[J]. Clin Genet, 2004, 65(4): 299-307. doi: 10.1111/j.1399-0004.2004.00219.x
    [47]
    Hoffmann B, Garcia DLA, Mehta A, et al. Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey)[J]. J Med Genet, 2005, 42(3): 247-252. doi: 10.1136/jmg.2004.025791
    [48]
    Palla A, Hegemann S, Widmer U, et al. Vestibular and auditory deficits in Fabry disease and their response to enzyme replacement therapy[J]. J Neurol, 2007, 254(10): 1433-1442. doi: 10.1007/s00415-007-0575-y
    [49]
    Hopkin RJ, Feldt-Rasmussen U, Germain DP, et al. Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: a Fabry registry analysis stratified by phenotype[J]. Mol Genet Metab Rep, 2020, 25: 100670. doi: 10.1016/j.ymgmr.2020.100670
    [50]
    Watt T, Burlina AP, Cazzorla C, et al. Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry registry[J]. Genet Med, 2010, 12(11): 703-712. doi: 10.1097/GIM.0b013e3181f13a4a
    [51]
    Veen SJ, Van KABP, Hollak CEM, et al. Antibodies against recombinant alpha-galactosidase A in Fabry disease: Subclass analysis and impact on response to treatment[J]. Mol Genet Metab, 2019, 126(2): 162-168. doi: 10.1016/j.ymgme.2018.11.008
    [52]
    FabrazymeⓇ. Summary of Product Characteristics[Z]. 2020.
    [53]
    ReplagalⓇ. Summary of Product Characteristics[Z]. 2018.
    [54]
    Arends M, Biegstraaten M, Wanner C, et al. Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study[J]. J Med Genet, 2018, 55(5): 351-358. doi: 10.1136/jmedgenet-2017-104863
    [55]
    Garman SC, Garboczi DN. The molecular defect leading to Fabry disease: structure of human alpha-galactosidase[J]. J Mol Biol, 2004, 337(2): 319-335. doi: 10.1016/j.jmb.2004.01.035
    [56]
    于澈, 周艳满, 李卓, 等. 法布里病患者临床表现及酶替代治疗的疗效分析[J]. 中华肾脏病杂志, 2022, 38(6): 497-503.
    [57]
    Lenders M, Oder D, Nowak A, et al. Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease[J]. J Intern Med, 2017, 282(3): 241-253. doi: 10.1111/joim.12647
    [58]
    Guerard 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[J]. Clin Pharmacol Ther, 2018, 103(4): 703-711. doi: 10.1002/cpt.790
    [59]
    Khan A, Barber DL, Huang J, et al. Lentivirus-mediated gene therapy for Fabry disease[J]. Nat Commun, 2021, 12(1): 1178. doi: 10.1038/s41467-021-21371-5
    [60]
    中共中央办公厅, 国务院办公厅. 中共中央办公厅国务院办公厅印发《关于进一步完善医疗卫生服务体系的意见》[EB/OL]. (2023-03-23)[2023-05-01]. http://www.gov.cn/zhengce/2023-03/23/content_5748063.htm.
    [61]
    Jaurretche S, Antongiovanni N, Perretta F. Fabry nephropathy. Role of nephrologist and clinical variables associated with the diagnosis[J]. Nefrologia (Engl Ed), 2019, 39(3): 294-300. doi: 10.1016/j.nefroe.2018.10.009
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