Effectiveness and safety of enzyme replacement therapy in the treatment of Fabry disease: a Chinese monocentric real-world study

Ezgu F, Alpsoy E, Bicik Bahcebasi Z, et al. Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective. Orphanet J Rare Dis. 2022;17(1):90.

Article  PubMed  PubMed Central  Google Scholar 

Laney DA, Bennett RL, Clarke V, et al. Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2013;22(5):555–64.

Article  PubMed  Google Scholar 

Thelansis. Fabry disease—market outlook, epidemiology, competitive landscape, and market forecast report—2023 To 2033. https://thelansis.com/reports/ fabry-disease-market-outlook-forecast/.

Turkmen K, Baloglu I. Fabry disease: where are we now? Int Urol Nephrol. 2020;52(11):2113–22.

Article  PubMed  Google Scholar 

Orphanet. Prevalence and incidence of rare diseases: bibliographic data. https://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf.

Burlina AB, Polo G, Salviati L, et al. Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy. J Inherit Metab Dis. 2018;41(2):209–19.

Article  PubMed  Google Scholar 

Sawada T, Kido J, Yoshida S, et al. Newborn screening for Fabry disease in the western region of Japan. Mol Genet Metab Rep. 2020;22: 100562.

Article  PubMed  PubMed Central  Google Scholar 

Gragnaniello V, Burlina AP, Commone A, et al. Newborn screening for Fabry disease: current status of knowledge. Int J Neonatal Screen. 2023;9(2):31.

Article  PubMed  PubMed Central  Google Scholar 

Chinese Fabry Disease Expert Panel. Expert consensus for diagnosis and treatment of Fabry disease in China (2021). Chin J Intern Med. 2021;60(4):321–30.

Google Scholar 

Xiao Y, Sun Y, Tian T, et al. Prevalence and clinical characteristics of Fabry disease in Chinese patients with hypertrophic cardiomyopathy. Am J Med Sci. 2021;362(3):260–7.

Article  PubMed  Google Scholar 

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. J Clin Med. 2021;10(10):2160.

Article  PubMed  PubMed Central  Google Scholar 

Chen N. Progress in the diagnosis and treatment of rare kidney diseases. J Rare Dis. 2024;3(01):12–7.

Google Scholar 

Vardarli I, Rischpler C, Herrmann K, et al. Diagnosis and screening of patients with Fabry disease. Ther Clin Risk Manag. 2020;16:551–8.

Article  PubMed  PubMed Central  Google Scholar 

McCaferty EH, Scott LJ. Migalastat: a review in Fabry disease. Drugs. 2019;79:543–54.

Article  Google Scholar 

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(2):284–93.

Article  PubMed  Google Scholar 

Rohrbach M, Clarke JT. Treatment of lysosomal storage disorders: progress with enzyme replacement therapy. Drugs. 2007;67(18):2697–716.

Article  PubMed  Google Scholar 

Lachmann RH. Treating lysosomal storage disorders: what have we learnt? J Inherit Metab Dis. 2020;43(1):125–32.

Article  PubMed  Google Scholar 

Brady RO, Tallman JF, Johnson WG, et al. Replacement therapy for inherited enzyme defciency. N Engl J Med. 1973;289:9–14.

Article  PubMed  Google Scholar 

Hopkin RJ, Jefferies JL, Laney DA, et al. The management and treatment of children with Fabry disease: a United States-based perspective. Mol Genet Metab. 2016;117(2):104–13.

Article  PubMed  Google Scholar 

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(1–2):49–61.

Article  PubMed  Google Scholar 

Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123(4):416–27.

Article  PubMed  Google Scholar 

Tang ZY, Li DY, Zhang P, et al. Enzyme replacement therapy in disease curative effect analysis. J Nephrol Dialy Transplant. 2023;32(5):412–8.

Google Scholar 

Lu ZH, Wang JJ, Yu L, et al. Clinical characteristics and enzyme replacement therapy in four cases of children with Fabry disease. Chin J Pedialr. 2021;59(4):322–6.

Google Scholar 

Yu C, Zhou YM, Li Z, et al. Clinical manifestations and efficacy of enzyme replacement therapy in patients with Fabry disease. Chin J Nephrol. 2022;38(6):497–503.

Google Scholar 

National Expert Cooperation Group of Fabre disease. Clinical nephrology professional committee of Chinese medical education association. Multi-disciplinary joint full-process management pathway for Fabre’s disease. Chin J Inter Med. 2023;62(8):949–55.

Google Scholar 

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

Article  PubMed  Google Scholar 

Aleš L, Germain DP, Iacopo O, et al. An expert consensus document on the management of cardiovascular manifestations of Fabry disease. Eur J Heart Fail. 2020;22(7):1076–96.

Article  Google Scholar 

Wanner C, Arad M, Baron R, et al. European expert consensus statement on therapeutic goals in Fabry disease. Mol Genet Metab. 2018;124(3):189–203.

Article  PubMed  Google Scholar 

Germain DP, Gheona A, Roberto B, et al. An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease. Mol Genet Metab. 2022;137(1–2):49–61.

Article  PubMed  Google Scholar 

Expert group of Shanghai Nephrology Clinical Quality Control Center. Guidelines for early screening, diagnosis and prevention of chronic kidney disease (2022 edition). Chin J Kidney Dis. 2022;38(5):453–64.

Google Scholar 

Paui SMB, Adeera LMD, Kelly MMS, et al. Clinical practice guideline for the evaluation and management of chronic kidney disease. Kidney Int Suppl. 2023;3(1):1–323.

Google Scholar 

Weinreb JC, Rodby RA, Yee J, et al. Use of intravenous gadolinium-based contrast media in patients with kidney disease: consensus statements from the American College of Radiology and the National Kidney Foundation. Radiology. 2021;298(1):28–35.

Article  PubMed  Google Scholar 

Pieroni M, Moon JC, Arbustini E, et al. Cardiac involvement in Fabry disease: JACC review topic of the week. J Am Coll Cardiol. 2021;77(7):922–36.

Article  PubMed  Google Scholar 

Sun NL, Shi ZW, Huo Y, et al. Expert consensus on the diagnosis and treatment of hypertension combined with left ventricular hypertrophy. Chin J Cardiovasc Med. 2019;2(1):1–5.

Google Scholar 

International conference on Harmonisation of technical requirements for registration of pharmaceuticals for human use. Clinical safety data management: definitions and standards for expedited reporting E2A. https://www.ich.org/page/efficacy-guidelines

Castelli V, Stamerra CA, Dancelo M, et al. Current and experimental therapeutics for Fabry disease. Clin Genet. 2021;100(3):239–47.

Article  PubMed  PubMed Central  Google Scholar 

Kok K, Zwiers KC, Boot RG, et al. Fabry disease: molecular basis, pathophysiology, diagnostics and potential therapeutic directions. Biomolecules. 2021;11(2):271.

Article  PubMed  PubMed Central  Google Scholar 

Linhart A, Dostálová G, Nicholls K, et al. 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 J Rare Dis. 2023;18(1):332.

Article  PubMed  PubMed Central  Google Scholar 

Vander Veen SJ, Hollak CEM, Van Kuilenburg ABP, et al. Developments in the treatment of Fabry disease. J Inherit Metab Dis. 2020;43(5):908–21.

Article  Google Scholar 

Feldt RU, Hughes D, Sunder-Plassmann G, et al. Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study. Mol Genet Metab. 2020;131(1–2):219–28.

Article  Google Scholar 

Li Y, Li Y, Li L, et al. Pharmacokinetics, safety, and tolerability of single-dose orally administered venglustat in healthy Chinese volunteers. Clin Drug Investing. 2023;43(6):413–20.

Article  Google Scholar 

Domm JM, Wootton SK, Medin JA, et al. Gene therapy for Fabry disease: progress, challenges, and outlooks on gene-editing. Mol Genet Metab. 2021;134(1–2):117–31.

Article  PubMed 

留言 (0)

沒有登入
gif