van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, et al. A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med. 2010;362(15):1396–406.
van der Ploeg AT, Reuser AJ. Pompe’s disease. Lancet. 2008;372(9646):1342–53.
Harlaar L, Hogrel J-Y, Perniconi B, Kruijshaar ME, Rizopoulos D, Taouagh N, et al. Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease. Neurology. 2019;93(19):e1756–67.
Article PubMed PubMed Central Google Scholar
Güngör D, Kruijshaar ME, Plug I, Rizopoulos D, Kanters TA, Wens SC, et al. Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up. J Inherit Metab Dis. 2016;39(2):253–60.
Perraudin C, Bourdin A, Vicino A, Kuntzer T, Bugnon O, Berger J. Home-based subcutaneous immunoglobulin for chronic inflammatory demyelinating polyneuropathy patients: a Swiss cost-minimization analysis. PLoS One. 2020;15(11): e0242630.
Article CAS PubMed PubMed Central Google Scholar
FDA. Highlights of prescribing information MYOZYME® (alglucosidase alfa) injectable for intravenous infusion: FDA [updated 05-2019]. https://www.accessdata.fda.gov/drugsatfda_docs/label/2014/125141s219lbl.pdf.
Myozyme: EPAR—Product information: European Medicines Agency; 2022 [updated 25-08-2022]. https://www.ema.europa.eu/en/documents/product-information/myozyme-epar-product-information_en.pdf.
Wenninger S, Gutschmidt K, Wirner C, Einvag K, Montagnese F, Schoser B. The impact of interrupting enzyme replacement therapy in late-onset Pompe disease. J Neurol. 2021;268(8):2943–50.
Article CAS PubMed PubMed Central Google Scholar
Tard C, Salort-Campana E, Michaud M, Spinazzi M, NadajPakleza A, Durr H, et al. Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID-19 pandemic. Eur J Neurol. 2022;29(4):1181–6.
Fiumara A, Lanzafame G, Arena A, Sapuppo A, Raudino F, Praticò A, et al. COVID-19 pandemic outbreak and its psychological impact on patients with rare lysosomal diseases. J Clin Med. 2020;9(9):2716.
Article CAS PubMed PubMed Central Google Scholar
Sechi A, Macor D, Valent S, Da Riol RM, Zanatta M, Spinelli A, et al. Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experience. Mol Genet Metab. 2020;130(3):170–1.
Article CAS PubMed PubMed Central Google Scholar
Lampe C, Dionisi-Vici C, Bellettato CM, Paneghetti L, van Lingen C, Bond S, et al. The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys. Orphanet J Rare Dis. 2020;15(1):341.
Article CAS PubMed PubMed Central Google Scholar
Guidon AC, Amato AA. COVID-19 and neuromuscular disorders. Neurology. 2020;94(22):959–69.
Article CAS PubMed Google Scholar
Benchimol EI, Smeeth L, Guttmann A, Harron K, Moher D, Petersen I, et al. The REporting of studies Conducted using Observational Routinely-collected health Data (RECORD) statement. PLoS Med. 2015;12(10): e1001885.
Article PubMed PubMed Central Google Scholar
van der Ploeg AT, Barohn R, Carlson L, Charrow J, Clemens PR, Hopkin RJ, et al. Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa. Mol Genet Metab. 2012;107(3):456–61.
National Institutes of Health NCI. Common Terminology Criteria for Adverse Events, version 5.0: National Institutes of Health, National Cancer Institute; 2017. https://ctep.cancer.gov/protocoldevelopment/electronic_applications/docs/CTCAE_v5_Quick_Reference_5x7.pdf [updated Nov 27].
Central Committee on Research Involving Human Subjects. L4. SAEs. https://english.ccmo.nl/investigators/standard-research-file/l-safety-information/l4-saes.
Council for International Organizations of Medical Sciences (CIOMS). Guidelines for preparing core clinical-safety information on drugs: Including new proposals for investigator’s brochures. Switzerland: Council for International Organizations of Medical Sciences; 1999.
de Vries JM, Kuperus E, Hoogeveen-Westerveld M, Kroos MA, Wens SCA, Stok M, et al. Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy. Genet Med. 2017;19:90.
Zimran A, Hollak CE, Abrahamov A, van Oers MH, Kelly M, Beutler E. Home treatment with intravenous enzyme replacement therapy for Gaucher disease: an international collaborative study of 33 patients. Blood. 1993;82(4):1107–9.
Article CAS PubMed Google Scholar
Linthorst GE, Vedder AC, Ormel EE, Aerts JM, Hollak CE. Home treatment for Fabry disease: practice guidelines based on 3 years experience in The Netherlands. Nephrol Dial Transplant. 2006;21(2):355–60.
Article CAS PubMed Google Scholar
Cox-Brinkman J, Timmermans RG, Wijburg FA, Donker WE, van de Ploeg AT, Aerts JM, et al. Home treatment with enzyme replacement therapy for mucopolysaccharidosis type I is feasible and safe. J Inherit Metab Dis. 2007;30(6):984.
Article CAS PubMed Google Scholar
Burton BK, Guffon N, Roberts J, van der Ploeg AT, Jones SA, HOS Investigators. Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II—data from the Hunter Outcome Survey. Mol Genet Metab. 2010;101(2–3):123–9.
Article CAS PubMed Google Scholar
Bagewadi S, Roberts J, Mercer J, Jones S, Stephenson J, Wraith JE. Home treatment with Elaprase and Naglazyme is safe in patients with mucopolysaccharidoses types II and VI, respectively. J Inherit Metab Dis. 2008;31(6):733–7.
Article CAS PubMed Google Scholar
Joep HJ, Kamphoven LD, Kroos MA, van der Ploeg AT, Duncker DJ, Reuser AJJ. Both low and high uptake forms of acid a-glucosidase target to muscle of KO mice with Pompe's disease. In: Center EMUM, editor. Pompe's disease; the mouse model as model in the development of enzyme therapy; 2004. p. 90–104. https://repub.eur.nl/pub/15246/Kamphoven_Joep%20H%20J_18%20feb%202004.pdf.
Zhu Y, Li X, McVie-Wylie A, Jiang C, Thurberg BL, Raben N, et al. Carbohydrate-remodelled acid alpha-glucosidase with higher affinity for the cation-independent mannose 6-phosphate receptor demonstrates improved delivery to muscles of Pompe mice. Biochem J. 2005;389(Pt 3):619–28.
Article CAS PubMed PubMed Central Google Scholar
Winkel LPF, Kamphoven JHJ, van den Hout HJMP, Severijnen LA, van Doorn PA, Reuser AJJ, et al. Morphological changes in muscle tissue of patients with infantile Pompe’s disease receiving enzyme replacement therapy. Muscle Nerve. 2003;27(6):743–51.
Article CAS PubMed Google Scholar
Wraith JE, Clarke LA, Beck M, Kolodny EH, Pastores GM, Muenzer J, et al. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-l-iduronidase (laronidase). J Pediatr. 2004;144(5):581–8.
Article CAS PubMed Google Scholar
Zhang XS, Brondyk W, Lydon JT, Thurberg BL, Piepenhagen PA. Biotherapeutic target or sink: analysis of the macrophage mannose receptor tissue distribution in murine models of lysosomal storage diseases. J Inherit Metab Dis. 2011;34(3):795–809.
Article CAS PubMed Google Scholar
Do HV, Khanna R, Gotschall R. Challenges in treating Pompe disease: an industry perspective. Ann Transl Med. 2019;7(13):291.
Article CAS PubMed PubMed Central Google Scholar
Cianferoni A. Non-IgE-mediated anaphylaxis. J Allergy Clin Immunol. 2021;147(4):1123–31.
Article CAS PubMed Google Scholar
Drain KL, Volcheck GW. Preventing and managing drug-induced anaphylaxis. Drug Saf. 2001;24(11):843–53.
Article CAS PubMed Google Scholar
van der Klauw MM, Wilson JH, Stricker BH. Drug-associated anaphylaxis: 20 years of reporting in The Netherlands (1974–1994) and review of the literature. Clin Exp Allergy. 1996;26(12):1355–63.
Joshi SR, Khan DA. Non-IgE-mediated drug hypersensitivity reactions. Curr Allergy Asthma Rep. 2021;21(7):41.
Article CAS PubMed Google Scholar
Khan AA, Case LE, Herbert M, DeArmey S, Jones H, Crisp K, et al. Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature. Genet Med. 2020;22(5):898–907. https://doi.org/10.1038/s41436-019-0738-0.
Article CAS PubMed PubMed Central Google Scholar
Broomfield A, Jones SA, Hughes SM, Bigger BW. The impact of the immune system on the safety and efficiency of enzyme replacement therapy in lysosomal storage disorders. J Inherit Metab Dis. 2016;39(4):499–512.
Article CAS PubMed Google Scholar
Kishnani PS, Goldenberg PC, DeArmey SL, Heller J, Benjamin D, Young S, et al. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab. 2010;99(1):26–33.
Article CAS PubMed PubMed Central Google Scholar
Banugaria SG, Prater SN, Ng YK, Kobori JA, Finkel RS, Ladda RL, et al. The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. Genet Med. 2011;13(8):729–36.
Article CAS PubMed PubMed Central Google Scholar
van Gelder CM, Hoogeveen-Westerveld M, Kroos MA, Plug I, van der Ploeg AT, Reuser AJJ. Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease. J Inherit Metab Dis. 2015;38(2):305–14.
留言 (0)