{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,24]],"date-time":"2025-12-24T12:21:46Z","timestamp":1766578906976,"version":"3.40.3"},"reference-count":47,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,3,28]],"date-time":"2025-03-28T00:00:00Z","timestamp":1743120000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,3,28]],"date-time":"2025-03-28T00:00:00Z","timestamp":1743120000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100016469","name":"Takeda Pharmaceuticals International AG","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100016469","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100031585","name":"Takeda Development Center Americas, Inc.","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100031585","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Fabry disease and Gaucher disease are rare genetic disorders characterized by defective degradation of glycosphingolipids caused by enzymatic deficiencies in \u03b1\u2013galactosidase A and \u03b2\u2013glucocerebrosidase, respectively, and often require life-long treatment. Treatment options for these disorders include replacing the deficient enzymes via enzyme replacement therapy (ERT). Agalsidase alfa for Fabry disease and velaglucerase alfa for Gaucher disease are two ERT options with demonstrated efficacy, safety, and tolerability. ERT infusions administered by a health care provider (HCP) in the clinic\/hospital, or at the patient\u2019s home are considered HCP-supported infusions. Self-administration of ERT (by patient, partner, relative, or caregiver) is optional in patients who tolerate the HCP-supported infusions at home and have a suitable home environment. This analysis explored the safety profiles of self-administered agalsidase alfa (202 patients) and velaglucerase alfa (30 patients) versus HCP-supported infusions using data from the Fabry Outcome Survey (FOS) and Gaucher Outcome Survey (GOS) registries.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>The frequency of infusion-related reactions (IRRs) adverse events (AEs) recorded in the two registries was lower in patients self-administering (FOS: 4.5%, GOS: 0%) versus patients receiving HCP-supported infusions (FOS: 13.6%, GOS: 1.6%). In the FOS registry, AE rates per 100 patient-years (100PY) of follow-up were similar between the self-administration (7.99) and HCP-supported infusion (6.78) groups. In patients self-administering agalsidase alfa, cardiac disorders were the most frequently reported AEs (19 [9.4%] patients) and serious AEs (12 [5.9%]) and gastrointestinal disorders were the most frequently reported IRRs (3 [1.5%]). In the GOS registry, AE rates per 100PY were similar between self-administration (4.97) and HCP-supported infusion (4.67) groups. In patients self-administering velaglucerase alfa, skin and subcutaneous disorders (4 [13.3%]) and infections and infestations (2 [6.7%]) were the most reported AEs and serious AEs, respectively, and no IRRs were reported.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>These findings suggest that self-administration of agalsidase alfa or velaglucerase alfa infusions are not associated with additional safety risks compared with HCP-supported infusions and are a suitable option for qualifying patients. Further research is warranted to support these findings and to explore further the long-term safety and efficacy of ERT self-administration.<\/jats:p>\n            <jats:p>FOS trial registration: ClinicalTrials.gov, NCT03289065. Registered 01 April 2001, <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"https:\/\/clinicaltrials.gov\/study\/NCT03289065\" ext-link-type=\"uri\">https:\/\/clinicaltrials.gov\/study\/NCT03289065<\/jats:ext-link>. GOS trial registration: ClinicalTrials.gov, NCT03291223. Registered 27 July 2010, <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"https:\/\/classic.clinicaltrials.gov\/ct2\/show\/NCT03291223\" ext-link-type=\"uri\">https:\/\/classic.clinicaltrials.gov\/ct2\/show\/NCT03291223<\/jats:ext-link>.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/s13023-024-03416-2","type":"journal-article","created":{"date-parts":[[2025,3,29]],"date-time":"2025-03-29T07:45:32Z","timestamp":1743234332000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys"],"prefix":"10.1186","volume":"20","author":[{"given":"Shoshana","family":"Revel-Vilk","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4703-7447","authenticated-orcid":false,"given":"Uma","family":"Ramaswami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guillem","family":"Pintos-Morell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Derralynn","family":"Hughes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathy","family":"Nicholls","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ricardo","family":"Reisin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Giugliani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ozlem","family":"Goker-Alpan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7598-2828","authenticated-orcid":false,"given":"Majdolen","family":"Istaiti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aidan","family":"Gill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizio","family":"Scarpa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaco","family":"Botha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,3,28]]},"reference":[{"issue":"21","key":"3416_CR1","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1056\/NEJM196705252762101","volume":"276","author":"RO Brady","year":"1967","unstructured":"Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic defect in Fabry\u2019s disease. Ceramidetrihexosidase deficiency. N Engl J Med. 1967;276(21):1163\u20137.","journal-title":"N Engl J Med"},{"issue":"7","key":"3416_CR2","doi-asserted-by":"crossref","first-page":"1112","DOI":"10.1172\/JCI105417","volume":"45","author":"RO Brady","year":"1966","unstructured":"Brady RO, Kanfer JN, Bradley RM, Shapiro D. Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher\u2019s disease. J Clin Invest. 1966;45(7):1112\u20135.","journal-title":"J Clin Invest."},{"key":"3416_CR3","first-page":"85","volume":"12","author":"D Concolino","year":"2017","unstructured":"Concolino D, Amico L, Cappellini MD, Cassinerio E, Conti M, Donati MA, et al. Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group. Mol Genet Metab Rep. 2017;12:85\u201391.","journal-title":"Mol Genet Metab Rep."},{"key":"3416_CR4","unstructured":"Symptoms Overview 2022 [Available from: https:\/\/www.fabrydisease.org\/index.php\/about-fabry-disease\/fabry-disease-symptoms-overview."},{"issue":"2","key":"3416_CR5","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.ymgme.2007.09.013","volume":"93","author":"WR Wilcox","year":"2008","unstructured":"Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008;93(2):112\u201328.","journal-title":"Mol Genet Metab."},{"issue":"2","key":"3416_CR6","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1007\/s10545-007-0521-2","volume":"30","author":"CM Eng","year":"2007","unstructured":"Eng CM, Fletcher J, Wilcox WR, Waldek S, Scott CR, Sillence DO, et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the fabry registry. J Inherit Metab Dis. 2007;30(2):184\u201392.","journal-title":"J Inherit Metab Dis."},{"key":"3416_CR7","unstructured":"National Fabry Disease Foundation. Fabry disease kidney symptoms 2022 [Available from: https:\/\/www.fabrydisease.org\/index.php\/component\/content\/article\/2-general\/129-fabry-disease-kidney-symptoms?Itemid=105."},{"issue":"5","key":"3416_CR8","doi-asserted-by":"crossref","first-page":"1631","DOI":"10.1681\/ASN.2016090964","volume":"28","author":"M Arends","year":"2017","unstructured":"Arends M, Wanner C, Hughes D, Mehta A, Oder D, Watkinson OT, et al. Characterization of classical and nonclassical Fabry disease: a multicenter study. J Am Soc Nephrol. 2017;28(5):1631\u201341.","journal-title":"J Am Soc Nephrol."},{"issue":"1\u20132","key":"3416_CR9","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.ymgme.2016.08.005","volume":"120","author":"D Elstein","year":"2017","unstructured":"Elstein D, Burrow TA, Charrow J, Giraldo P, Mehta A, Pastores GM, et al. Home infusion of intravenous velaglucerase alfa: experience from pooled clinical studies in 104 patients with type 1 Gaucher disease. Mol Genet Metab. 2017;120(1\u20132):111\u20135.","journal-title":"Mol Genet Metab."},{"issue":"2","key":"3416_CR10","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1002\/ajh.24957","volume":"93","author":"A Zimran","year":"2018","unstructured":"Zimran A, Belmatoug N, Bembi B, Deegan P, Elstein D, Fernandez-Sasso D, et al. Demographics and patient characteristics of 1209 patients with Gaucher disease: descriptive analysis from the Gaucher Outcome Survey (GOS). Am J Hematol. 2018;93(2):205\u201312.","journal-title":"Am J Hematol."},{"issue":"2","key":"3416_CR11","doi-asserted-by":"crossref","first-page":"441","DOI":"10.3390\/ijms18020441","volume":"18","author":"J Stirnemann","year":"2017","unstructured":"Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017;18(2):441.","journal-title":"Int J Mol Sci"},{"key":"3416_CR12","unstructured":"National Organization for Rare Disorders (NORD). Gaucher disease 2021 [Available from: https:\/\/rarediseases.org\/rare-diseases\/gaucher-disease\/."},{"issue":"1","key":"3416_CR13","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1186\/s13023-022-02392-9","volume":"17","author":"M Beck","year":"2022","unstructured":"Beck M, Ramaswami U, Hernberg-St\u00e5hl E, Hughes DA, Kampmann C, Mehta AB, et al. Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry. Orphanet J Rare Dis. 2022;17(1):238.","journal-title":"Orphanet J Rare Dis"},{"key":"3416_CR14","doi-asserted-by":"crossref","first-page":"1395287","DOI":"10.3389\/fgene.2024.1395287","volume":"15","author":"DP Germain","year":"2024","unstructured":"Germain DP, Linhart A. Pegunigalsidase alfa: a novel, pegylated recombinant alpha-galactosidase enzyme for the treatment of Fabry disease. Front Genet. 2024;15:1395287.","journal-title":"Front Genet"},{"issue":"6","key":"3416_CR15","doi-asserted-by":"crossref","first-page":"1463","DOI":"10.1182\/blood-2011-04-308890","volume":"118","author":"A Zimran","year":"2011","unstructured":"Zimran A. How I treat Gaucher disease. Blood. 2011;118(6):1463\u201371.","journal-title":"Blood"},{"issue":"4","key":"3416_CR16","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/j.ymgme.2019.02.005","volume":"126","author":"H Sasa","year":"2019","unstructured":"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. Mol Genet Metab. 2019;126(4):448\u201359.","journal-title":"Mol Genet Metab."},{"issue":"5","key":"3416_CR17","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1080\/14740338.2021.1891221","volume":"20","author":"M Tsurumi","year":"2021","unstructured":"Tsurumi M, Suzuki S, Hokugo J, Ueda K. Long-term safety and efficacy of agalsidase beta in Japanese patients with Fabry disease: aggregate data from two post-authorization safety studies. Expert Opin Drug Saf. 2021;20(5):589\u2013601.","journal-title":"Expert Opin Drug Saf."},{"issue":"2","key":"3416_CR18","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1016\/j.ymgme.2015.05.012","volume":"117","author":"L Smith","year":"2016","unstructured":"Smith L, Rhead W, Charrow J, Shankar SP, Bavdekar A, Longo N, et al. Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 na\u00efve to enzyme replacement therapy or previously treated with imiglucerase. Mol Genet Metab. 2016;117(2):164\u201371.","journal-title":"Mol Genet Metab."},{"issue":"1","key":"3416_CR19","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1186\/s13023-022-02289-7","volume":"17","author":"L Titievsky","year":"2022","unstructured":"Titievsky L, Schuster T, Wang R, Younus M, Palladino A, Quazi K, et al. Safety and effectiveness of taliglucerase alfa in patients with Gaucher disease: an interim analysis of real-world data from a multinational drug registry (TALIAS). Orphanet J Rare Dis. 2022;17(1):145.","journal-title":"Orphanet J Rare Dis."},{"key":"3416_CR20","unstructured":"U.S. Food & Drug Administration. Highlights of prescribing information for VPRIV. 2010."},{"key":"3416_CR21","unstructured":"Takeda Canada Inc. Replagal product monograph. 2021."},{"issue":"11","key":"3416_CR22","doi-asserted-by":"crossref","first-page":"e15033","DOI":"10.1371\/journal.pone.0015033","volume":"5","author":"J Marshall","year":"2010","unstructured":"Marshall J, Ashe KM, Bangari D, McEachern K, Chuang WL, Pacheco J, et al. Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease. PLoS ONE. 2010;5(11):e15033.","journal-title":"PLoS ONE"},{"issue":"1","key":"3416_CR23","first-page":"31","volume":"73","author":"I Kisinovsky","year":"2013","unstructured":"Kisinovsky I, C\u00e1ceres G, Coronel C, Reisin R. Home infusion program for Fabry disease: experience with agalsidase alfa in Argentina. Medicina (B Aires). 2013;73(1):31\u20134.","journal-title":"Medicina (B Aires)"},{"issue":"2","key":"3416_CR24","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1093\/ndt\/gfi221","volume":"21","author":"GE Linthorst","year":"2006","unstructured":"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 Transpl. 2006;21(2):355\u201360.","journal-title":"Nephrol Dial Transpl."},{"issue":"4","key":"3416_CR25","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/j.bcmd.2015.09.002","volume":"55","author":"D Elstein","year":"2015","unstructured":"Elstein D, Abrahamov A, Oz A, Arbel N, Baris H, Zimran A. 13,845 home therapy infusions with velaglucerase alfa exemplify safety of velaglucerase alfa and increased compliance to every-other-week intravenous enzyme replacement therapy for Gaucher disease. Blood Cells Mol Dis. 2015;55(4):415\u20138.","journal-title":"Blood Cells Mol Dis."},{"issue":"2","key":"3416_CR26","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1016\/j.ymgme.2012.12.005","volume":"108","author":"BE Smid","year":"2013","unstructured":"Smid BE, Hoogendijk SL, Wijburg FA, Hollak CE, Linthorst GE. A revised home treatment algorithm for Fabry disease: influence of antibody formation. Mol Genet Metab. 2013;108(2):132\u20137.","journal-title":"Mol Genet Metab."},{"issue":"46","key":"3416_CR27","doi-asserted-by":"crossref","first-page":"2345","DOI":"10.1055\/s-0033-1349624","volume":"138","author":"M Beck","year":"2013","unstructured":"Beck M, Gaedeke J, Martus P, Karabul N, Rolfs A. [Home-based infusion therapy\u2013a feasible approach for chronically ill patients? A new path to provide superior patient care exemplified for Fabry\u2019s disease] [Article in German]. Dtsch Med Wochenschr. 2013;138(46):2345\u201350.","journal-title":"Dtsch Med Wochenschr."},{"issue":"22","key":"3416_CR28","doi-asserted-by":"crossref","first-page":"1384","DOI":"10.12968\/bjon.2007.16.22.27768","volume":"16","author":"DA Hughes","year":"2007","unstructured":"Hughes DA, Mlilligan A, Mehta A. Home therapy for lysosomal storage disorders. Br J Nurs. 2007;16(22):1384\u20139.","journal-title":"Br J Nurs."},{"issue":"6","key":"3416_CR29","doi-asserted-by":"crossref","first-page":"330","DOI":"10.12968\/bjon.2006.15.6.20681","volume":"15","author":"A Milligan","year":"2006","unstructured":"Milligan A, Hughes D, Goodwin S, Richfield L, Mehta A. Intravenous enzyme replacement therapy: better in home or hospital? Br J Nurs. 2006;15(6):330\u20133.","journal-title":"Br J Nurs"},{"issue":"2","key":"3416_CR30","doi-asserted-by":"publisher","first-page":"S109","DOI":"10.1016\/j.ymgme.2019.11.281","volume":"129","author":"E Mengel","year":"2020","unstructured":"Mengel E, Stulnig TM, Kralewski M, Lachmann A, Martus P. Home infusion therapy with velaglucerase alfa for Gaucher disease type 1 in Germany and Austria. Mol Genet Metab. 2020;129(2):S109. https:\/\/doi.org\/10.1016\/j.ymgme.2019.11.281.","journal-title":"Mol Genet Metab."},{"issue":"2","key":"3416_CR31","doi-asserted-by":"publisher","first-page":"S94","DOI":"10.1016\/j.ymgme.2019.11.236","volume":"129","author":"A Lachmann","year":"2020","unstructured":"Lachmann A, Kurschat C, Fritsch A, Lagler F, Sunder-Plassmann G, Martus P, Kralewski M, Hennermann JB. Home infusion therapy with agalsidase alfa for patients with Fabry disease in Germany and Austria. Mol Genet Metab. 2020;129(2):S94. https:\/\/doi.org\/10.1016\/j.ymgme.2019.11.236.","journal-title":"Mol Genet Metab."},{"issue":"4","key":"3416_CR32","doi-asserted-by":"crossref","first-page":"449","DOI":"10.17219\/acem\/132038","volume":"30","author":"M Kusztal","year":"2021","unstructured":"Kusztal M, K\u0142opotowski M, Bazan-Socha S, B\u0142a\u017cejewska-Hy\u017corek B, Pawlaczyk K, Oko A, et al. Is home-based therapy in Fabry disease the answer to compelling patients\u2019 needs during the COVID-19 pandemic? Survey results from the Polish FD Collaborative Group. Adv Clin Exp Med. 2021;30(4):449\u201354.","journal-title":"Adv Clin Exp Med."},{"key":"3416_CR33","first-page":"100788","volume":"28","author":"D Elstein","year":"2021","unstructured":"Elstein D, Giugliani R, Muenzer J, Schenk J, Schwartz IVD, Anagnostopoulou C. Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome Survey registries. Mol Genet Metab Rep. 2021;28:100788.","journal-title":"Mol Genet Metab Rep."},{"issue":"5","key":"3416_CR34","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1097\/NAN.0000000000000240","volume":"40","author":"VM Rasutis","year":"2017","unstructured":"Rasutis VM, Katzberg HD, Bril V. High-dose subcutaneous immunoglobulin in patients with multifocal motor neuropathy: a nursing perspective. J Infus Nurs. 2017;40(5):305\u201312.","journal-title":"J Infus Nurs."},{"issue":"1","key":"3416_CR35","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1111\/j.1365-2249.2006.03256.x","volume":"147","author":"HJ Longhurst","year":"2007","unstructured":"Longhurst HJ, Carr S, Khair K. C1-inhibitor concentrate home therapy for hereditary angioedema: a viable, effective treatment option. Clin Exp Immunol. 2007;147(1):11\u20137.","journal-title":"Clin Exp Immunol."},{"issue":"4","key":"3416_CR36","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1159\/000381341","volume":"166","author":"A Petraroli","year":"2015","unstructured":"Petraroli A, Squeglia V, Di Paola N, Barbarino A, Bova M, Span\u00f2 R, et al. Home therapy with plasma-derived C1 inhibitor: a strategy to improve clinical outcomes and costs in hereditary angioedema. Int Arch Allergy Immunol. 2015;166(4):259\u201366.","journal-title":"Int Arch Allergy Immunol."},{"issue":"5","key":"3416_CR37","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1111\/hex.12083","volume":"18","author":"K Khair","year":"2015","unstructured":"Khair K, Meerabeau L, Gibson F. Self-management and skills acquisition in boys with haemophilia. Health Expect. 2015;18(5):1105\u201313.","journal-title":"Health Expect"},{"issue":"17","key":"3416_CR38","doi-asserted-by":"crossref","first-page":"5158","DOI":"10.3390\/jcm11175158","volume":"11","author":"DA Hughes","year":"2022","unstructured":"Hughes DA, Deegan P, Giraldo P, Goker-Alpan O, Lau H, Lukina E, et al. Switching between enzyme replacement therapies and substrate reduction therapies in patients with Gaucher disease: data from the Gaucher Outcome Survey (GOS). J Clin Med. 2022;11(17):5158.","journal-title":"J Clin Med."},{"issue":"3","key":"3416_CR39","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/j.ymgme.2020.04.002","volume":"130","author":"A Sechi","year":"2020","unstructured":"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\u20131.","journal-title":"Mol Genet Metab"},{"key":"3416_CR40","unstructured":"Fraser N, Georgiou R, Brown M, Bischoff C, Agnew R. The Australian ATHOMETM Infusion service experience. Society for the study of inborn errors of metabolism (SSIEM) 2014 Annual Symposium; Innsbruck, Austria: J Inherit Metab Dis; September 2\u20135, 2014."},{"key":"3416_CR41","unstructured":"Ltd TPAP. Australian product information, Replagal\u00ae (agalsidase alfa ghu) 2020 [12]. Available from: https:\/\/www.health.gov.au\/resources\/collections\/life-saving-drugs-program-resources-fabry-disease."},{"key":"3416_CR42","unstructured":"Ltd TPAP. Australian product information - VPRIV\u00ae(velaglucerase alfa ghu) powder. 2020."},{"key":"3416_CR43","unstructured":"Government of Brazil. Ministry of Health [Minist\u00e9rio da Sa\u00fade] [in Portuguese]: gov.br; 2023 [Available from: https:\/\/www.gov.br\/saude\/pt-br."},{"key":"3416_CR44","unstructured":"FOS steering committee. Fabry ourcome survey annual report 2016. Shire; August 2017."},{"key":"3416_CR45","unstructured":"V Dob\u00e9 Pandemie Onemocn\u011bn\u00ed COVID-19 Jsou Pacienti se Vz\u00e1cn\u00ddmi Onemocn\u011bn\u00edmi Vysoce Rizikovou Skupinou [press release]. \u010cesk\u00e9 asociace pro vz\u00e1cn\u00e1 onemocn\u011bn\u00ed. April 4, 2020."},{"key":"3416_CR46","unstructured":"European Medicines Agency. Replagal, Annex I, Summary of product characteristics. Takeda Pharmaceuticals International AG Ireland Branch; 2006."},{"issue":"4","key":"3416_CR47","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1182\/blood.V82.4.1107.1107","volume":"82","author":"A Zimran","year":"1993","unstructured":"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\u20139.","journal-title":"Blood"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-024-03416-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-024-03416-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-024-03416-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,29]],"date-time":"2025-03-29T07:46:42Z","timestamp":1743234402000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-024-03416-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,28]]},"references-count":47,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["3416"],"URL":"https:\/\/doi.org\/10.1186\/s13023-024-03416-2","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,28]]},"assertion":[{"value":"12 March 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 October 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 March 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"FOS and GOS registries have been approved by the ethics institutional review boards of participating centers and are conducted in compliance with relevant global and local regulations and best practices, Good Pharmacoepidemiological Practice, Good Research for Comparative Effectiveness principles, and the relevant principles of the International Conference on Harmonisation Good Clinical Practice guidelines (ICH E6), as appropriate for an observational registry. All participants provided written informed consent.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"SRV received grant\/research support, honoraria, and advisory fees from Pfizer, Sanofi\/Genzyme and Takeda. UR received honoraria for lectures and advisory boards from Amicus, Sanofi and Takeda; research grants from Amicus, Intrabio and Takeda. GPM received honoraria as a speaker and\/or consultancy from Amicus, Chiesi, Lucane, and Takeda and unrestricted grants for research of Rare Diseases at VHIR from Sanofi and Takeda. DH received honoraria for speaking and advisory boards from Amicus, Chiesi, Freeline, Idorsia, Sangamo, Sanofi and Takeda. KN reports honoraria from Amicus Therapeutics, Sanofi Genzyme, and Takeda; and is a member of the FOS Steering Committee. RR reports honoraria, speaker fees, and consulting fees from Amicus Therapeutics, CSL Behring, Gador, Sanofi Genzyme, Novartis, and Takeda; and is a member of the FOS Steering Committee. RG received research grants, investigator fees, speaker\/consultancy honoraria, and travel support to attend scientific meetings from Allievex, Amicus, Avrobio, Asafaros, BioMarin, Chiesi, Cyclo, DASA, Idorsia, Inventiva, Janssen, JCR, Lysogene, Novartis, Paradigm, PassageBio, Pfizer, Protalix, PTC, RegenxBio, Sanofi, Sigilon, Sobi,Takeda and Ultragenyx. OGA has received grant support from 4DMT, Chiesi, Idorsia, Protalix, Sangamo, and Sanofi for clinical research trials and from Sanofi and Takeda for other investigator-initiated studies; consulting fees from Chiesi, Sanofi, Takeda, and Uniqure; honoraria for speaker bureaus from Sanofi and Takeda and participates on the Advisory Board on Fabry Disease for Chiese and Sanofi. MI received support for the SZMC Gaucher Unit from Sanofi\/Genzyme for participation in the ICGG Registry, from Takeda for the GOS Registry, and Pfizer for TALIAS; the Unit also receives research grants from Centogene, Pfizer, Sanofi\/Genzyme and Takeda. AG was an employee of Takeda\u00a0and stockholder in Takeda at the time of study start. MS has received honoraria and travel support from Alexion, Bi-938 oMarin, CHIESI, Orchard, Regenexbio, Sanofi, Takeda, and Ultragenyx. JB is an employee of Takeda\u00a0and holds stock options in Takeda.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"145"}}