Scientific Papers

Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study | Orphanet Journal of Rare Diseases


  • Koulousios K, Stylianou K, Pateinakis P, Zamanakou M, Loules G, Manou E, et al. Fabry disease due to D313Y and novel GLA mutations. BMJ Open. 2017;7(10): e017098.

    Article 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Schiffmann R, Hughes DA, Linthorst GE, Ortiz A, Svarstad E, Warnock DG, 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.

    Article 
    PubMed 

    Google Scholar
     

  • Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.

    Article 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, et al. European expert consensus statement on therapeutic goals in Fabry disease. Mol Genet Metab. 2018;124(3):189–203.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Germain DP, Weidemann F, Abiose A, Patel MR, Cizmarik M, Cole JA, et al. Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry Registry. Genet Med. 2013;15(12):958–65.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet Med. 2009;11(11):790–6.

    Article 
    PubMed 

    Google Scholar
     

  • Arends M, Hollak CE, Biegstraaten M. Quality of life in patients with Fabry disease: a systematic review of the literature. Orphanet J Rare Dis. 2015;10:77.

    Article 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Kubo T. Fabry disease and its cardiac involvement. J Gen Fam Med. 2017;18(5):225–9.

    Article 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Echevarria L, Benistan K, Toussaint A, Dubourg O, Hagege AA, Eladari D, et al. X-chromosome inactivation in female patients with Fabry disease. Clin Genet. 2016;89(1):44–54.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Warnock DG, Ortiz A, Mauer M, Linthorst GE, Oliveira JP, Serra AL, et al. Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation. Nephrol Dial Transplant. 2012;27(3):1042–9.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Schiffmann R, Kopp JB, Austin HA 3rd, Sabnis S, Moore DF, Weibel T, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA. 2001;285(21):2743–9.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Schiffmann R, Ries M, Timmons M, Flaherty JT, Brady RO. Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant. 2006;21(2):345–54.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • van Breemen MJ, Rombach SM, Dekker N, Poorthuis BJ, Linthorst GE, Zwinderman AH, et al. Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy. Biochem Biophys Acta. 2011;1812(1):70–6.

    PubMed 

    Google Scholar
     

  • Hughes DA, Elliott PM, Shah J, Zuckerman J, Coghlan G, Brookes J, et al. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa. Heart. 2008;94(2):153–8.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Eto Y, Ohashi T, Utsunomiya Y, Fujiwara M, Mizuno A, Inui K, et al. Enzyme replacement therapy in Japanese Fabry disease patients: the results of a phase 2 bridging study. J Inherit Metab Dis. 2005;28(4):575–83.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Kim JH, Lee BH, Hyang Cho J, Kang E, Choi J-H, Kim GH, et al. Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes. J Hum Genet. 2016;61(11):923–9.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Kampmann C, Perrin A, Beck M. Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years’ treatment. Orphanet J Rare Dis. 2015;10:125.

    Article 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Schaefer RM, Tylki-Szymańska A, Hilz MJ. Enzyme replacement therapy for Fabry disease: a systematic review of available evidence. Drugs. 2009;69(16):2179–205.

    Article 
    CAS 

    Google Scholar
     

  • Lidove O, West ML, Pintos-Morell G, Reisin R, Nicholls K, Figuera LE, et al. Effects of enzyme replacement therapy in Fabry disease: a comprehensive review of the medical literature. Genet Med. 2010;12(11):668–79.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Wilcox WR, Linthorst GE, Germain DP, Feldt-Rasmussen U, Waldek S, Richards SM, et al. Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry. Mol Genet Metab. 2012;105(3):443–9.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Lenders M, Brand E. Effects of enzyme replacement therapy and antidrug antibodies in patients with Fabry disease. J Am Soc Nephrol. 2018;29(9):2265–78.

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Germain DP, Waldek S, Banikazemi M, Bushinsky DA, Charrow J, Desnick RJ, et al. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol. 2007;18(5):1547–57.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, et al. Safety and efficacy of recombinant human alpha-galactosidase A: replacement therapy in Fabry’s disease. N Engl J Med. 2001;345(1):9–16.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Azevedo O, Gago MF, Miltenberger-Miltenyi G, Sousa N, Cunha D. Fabry disease therapy: state-of-the-art and current challenges. Int J Mol Sci. 2021;22(1):206.

    Article 
    CAS 

    Google Scholar
     

  • ELFABRIO (pegunigalsidase alfa-iwxj) injection, for intravenous use. ELFABRIO (pegunigalsidase alfa-iwxj) injection, for intravenous use ed. Parma, Italy: Chiesi Farmaceutici S.p.A.; 2023.

  • Lenders M, Pollmann S, Terlinden M, Brand E. Pre-existing anti-drug antibodies in Fabry disease show less affinity for pegunigalsidase alfa. Mol Ther Methods Clin Dev. 2022;26:323–30.

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Hughes D, Gonzalez D, Maegawa G, Bernat JA, Holida M, Giraldo P, et al. Long-term safety and efficacy of pegunigalsidase alfa: a multicenter 6-year study in adult patients with Fabry disease. Genet Med. 2023. https://doi.org/10.1016/j.gim.2023.100968.

    Article 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Schiffmann R, Goker-Alpan O, Holida M, Giraldo P, Barisoni L, Colvin RB, 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(3):534–44.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • AB SHGT. Replagal® (agalsidase alfa) 1 mg/ml concentrate for solution for infusion [prescribing information]. ed. Stockholm, Sweden: Shire Human Genetic Therapies AB; 2020.

  • Boutin M, Auray-Blais C. Multiplex tandem mass spectrometry analysis of novel plasma lyso-Gb3-related analogues in Fabry disease. Anal Chem. 2014;86(7):3476–83.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Lavoie P, Boutin M, Abaoui M, Auray-Blais C. Fabry disease biomarkers: analysis of urinary lyso-Gb3 and seven related analogs using tandem mass spectrometry. Curr Protoc Hum Genet. 2016;90:17.22.1-17.22.12.

    PubMed 

    Google Scholar
     

  • Aerts JM, Groener JE, Kuiper S, Donker-Koopman WE, Strijland A, Ottenhoff R, et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci USA. 2008;105(8):2812–7.

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Kramer J, Weidemann F. Biomarkers for diagnosing and staging of Fabry disease. Curr Med Chem. 2018;25(13):1530–7.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Levey AS, Stevens LA, Schmid CH, Zhang YL, Castro AF 3rd, Feldman HI, et al. A new equation to estimate glomerular filtration rate. Ann Intern Med. 2009;150(9):604–12.

    Article 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Levey AS, Coresh J, Greene T, Marsh J, Stevens LA, Kusek JW, et al. Expressing the modification of diet in renal disease study equation for estimating glomerular filtration rate with standardized serum creatinine values. Clin Chem. 2007;53(4):766–72.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Kawel-Boehm N, Maceira A, Valsangiacomo-Buechel ER, Vogel-Claussen J, Turkbey EB, Williams R, et al. Normal values for cardiovascular magnetic resonance in adults and children. J Cardiovasc Magn Reson. 2015;17:29.

    Article 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Kawel-Boehm N, Maceira A, Valsangiacomo-Buechel ER, Vogel-Claussen J, Turkbey EB, Williams R, et al. Normal values for cardiovascular magnetic resonance in adults and children. J Cardiovasc Magn Reson. 2015;17(1):29.

    Article 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Ruderfer I, Shulman A, Kizhner T, Azulay Y, Nataf Y, Tekoah Y, et al. Development and analytical characterization of pegunigalsidase alfa, a chemically cross-linked plant recombinant human alpha-galactosidase-A for treatment of Fabry disease. Bioconjug Chem. 2018;29(5):1630–9.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Kizhner T, Azulay Y, Hainrichson M, Tekoah Y, Arvatz G, Shulman A, et al. Characterization of a chemically modified plant cell culture expressed human alpha-Galactosidase-A enzyme for treatment of Fabry disease. Mol Genet Metab. 2015;114(2):259–67.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Corporation G. Fabrazyme (agalsidase beta) Injection, powder, lyophilized for solution for intravenous use [prescribing information]. Cambridge: Genzyme Corporation; 2021.


    Google Scholar
     

  • Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, et al. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. J Med Genet. 2015;52(5):353–8.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Pisani A, Bruzzese D, Sabbatini M, Spinelli L, Imbriaco M, Riccio E. Switch to agalsidase alfa after shortage of agalsidase beta in Fabry disease: a systematic review and meta-analysis of the literature. Genet Med. 2017;19(3):275–82.

    Article 
    PubMed 

    Google Scholar
     

  • Riccio E, Pisani A. New insights in efficacy of different enzyme replacement therapy dosages in Fabry disease: switch studies data following agalsidase beta shortage. Clin Genet. 2022.

  • Tondel C, Bostad L, Larsen KK, Hirth A, Vikse BE, Houge G, et al. Agalsidase benefits renal histology in young patients with Fabry disease. J Am Soc Nephrol. 2013;24(1):137–48.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Vedder AC, Linthorst GE, Houge G, Groener JE, Ormel EE, Bouma BJ, et al. Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. PLoS ONE. 2007;2(7):e598.

    Article 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Wallace E, Goker-Alpan O, Wilcox WR, Holida M, J B, Longo N, et al. Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomized Phase 3 BALANCE study. J Med Genet (in press).

  • Sakuraba H, Togawa T, Tsukimura T, Kato H. Plasma lyso-Gb3: a biomarker for monitoring fabry patients during enzyme replacement therapy. Clin Exp Nephrol. 2018;22(4):843–9.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Tsuboi K, Yamamoto H. Efficacy and safety of enzyme-replacement-therapy with agalsidase alfa in 36 treatment-naive Fabry disease patients. BMC Pharmacol Toxicol. 2017;18(1):43.

    Article 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med. 2007;146(2):77–86.

    Article 
    PubMed 

    Google Scholar
     

  • Vedder AC, Breunig F, Donker-Koopman WE, Mills K, Young E, Winchester B, et al. Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3. Mol Genet Metab. 2008;94(3):319–25.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • van der Veen SJ, Vlietstra WJ, van Dussen L, van Kuilenburg ABP, Dijkgraaf MGW, Lenders M, et al. Predicting the development of anti-drug antibodies against recombinant alpha-galactosidase a in male patients with classical Fabry disease. Int J Mol Sci. 2020;21(16):5784.

    Article 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • ELFABRIO (pegunigalsidase alfa) Summary of Product Characteristics. ELFABRIO (pegunigalsidase alfa) Summary of Product Characteristics ed. Parma, Italy: Chiesi Farmaceutici S.p.A; 2023.

  • FABRAZYME (agalsidase beta) Summary of Product Characteristics. FABRAZYME (agalsidase beta) Summary of Product Characteristics ed: Genzyme Corporation; 2023.

  • Burlina A, Brand E, Hughes D, Kantola I, Krӓmer J, Nowak A, et al. An expert consensus on the recommendations for the use of biomarkers in Fabry disease. Mol Genet Metab. 2023;139(2): 107585.

    Article 
    CAS 
    PubMed 

    Google Scholar
     



  • Source link