{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T05:08:59Z","timestamp":1772168939796,"version":"3.50.1"},"update-to":[{"DOI":"10.12688\/f1000research.55313.1","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2021,10,22]],"date-time":"2021-10-22T00:00:00Z","timestamp":1634860800000}}],"reference-count":16,"publisher":"F1000 Research Ltd","license":[{"start":{"date-parts":[[2021,10,22]],"date-time":"2021-10-22T00:00:00Z","timestamp":1634860800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"The authors declared that no grants were involved in supporting this work."}],"content-domain":{"domain":["f1000research.com"],"crossmark-restriction":false},"short-container-title":["F1000Res"],"abstract":"<ns4:p>Fabry disease (FD) is an ultra-rare genetic lysosomal storage disease caused by pathologic gene variants resulting in insufficient expression of \u03b1-galactosidase A. This enzyme deficiency leads to accumulation of globotriaosylceramide and globotriaosylsphingosine in plasma and in different cells throughout the body, causing major cardiovascular, renal, and nervous system complications. Until 2018, reimbursed enzyme replacement therapy (ERT) for FD was available in all European Union countries except Poland.<\/ns4:p>\n                  <ns4:p>\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 We present the preliminary results of the first two years of reimbursed ERT in Poland. We obtained data from the seven largest academic centers in Katowice, Cracow, Wroc\u0142aw, Pozna\u0144, Gda\u0144sk, Warsaw, and \u0141\u00f3d\u017a. The questionnaire included the following data: number of patients treated, number of patients qualified for ERT, and patient characteristics.<\/ns4:p>\n                  <ns4:p>\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 All centers returned completed questionnaires that included data for a total of 71 patients (28 men and 43 women) as of June 2021. Thirty-five patients with the diagnosis of FD confirmed by genetic testing (22 men and 13 women) had already qualified for reimbursed ERT. Mean (SD) age at the commencement of the ERT program was 39.6 (15.5) years (range 18-79 years). Mean time from the first clinical symptoms reported by the patients to the FD diagnosis was 21.1 (8.9) years, and the mean time from the final diagnosis of FD to the beginning of ERT was 4.7 (4.6) years.<\/ns4:p>\n                  <ns4:p>\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 FD is still underdiagnosed in Poland. To identify undiagnosed FD patients and to ensure that patients in Poland benefit fully from ERT, implementation of an effective nationwide screening strategy and close cooperation with a network of rare disease centers is advised.<\/ns4:p>","DOI":"10.12688\/f1000research.55313.2","type":"journal-article","created":{"date-parts":[[2021,10,22]],"date-time":"2021-10-22T10:30:10Z","timestamp":1634898610000},"page":"841","update-policy":"https:\/\/doi.org\/10.12688\/f1000research.crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["First two years of reimbursed enzyme replacement therapy in the treatment of Fabry disease in Poland"],"prefix":"10.12688","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0823-5440","authenticated-orcid":false,"given":"Micha\u0142","family":"Nowicki","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monika","family":"Komar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariusz","family":"Kusztal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katarzyna","family":"Mizia-Stec","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomasz","family":"Liberek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8701-8171","authenticated-orcid":false,"given":"Jolanta","family":"Ma\u0142yszko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katarzyna","family":"Muras-Szwedziak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6237-0814","authenticated-orcid":false,"given":"Krzysztof","family":"Pawlaczyk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piotr","family":"Podolec","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaros\u0142aw","family":"S\u0142awek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2560","published-online":{"date-parts":[[2021,10,22]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1750-1172-5-30","article-title":"Fabry 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Amsterdam","year":"2020"},{"key":"ref7","first-page":"2019","article-title":"Canadian Fabry Disease Treatment Guidelines 2019.","volume":"4","author":"S Sirrs","year":"Oct 2019"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.04.007","article-title":"The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease: a systematic literature review a European panel of experts.","author":"M Spada","year":"2018","journal-title":"Mol Genet Metab."},{"key":"ref9","article-title":"Where is Fabry social campaign video."},{"key":"ref10","article-title":"Who is Fabry social campaign video."},{"key":"ref11","article-title":"Fabry Disease \u2013 a burning problem."},{"key":"ref12","doi-asserted-by":"publisher","first-page":"567-568","DOI":"10.20452\/pamw.4342","article-title":"Fabry disease in Poland.","volume":"128","author":"S Bazan-Socha","year":"2018","journal-title":"Pol Arch Intern Med."},{"key":"ref13","doi-asserted-by":"publisher","first-page":"91-97","DOI":"10.20452\/pamw.15117","article-title":"Enzyme replacement therapy in Fabry disease in Poland: position statement.","volume":"130","author":"M Nowicki","year":"2020","journal-title":"Pol Arch Intern Med."},{"key":"ref14","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1016\/j.jval.2020.04.1321","article-title":"PRO100 Evaluation of treatment patterns of Fabry Disease utilizing medical claims analyses of a German sickness fund database.","volume":"23","author":"M Hilz","year":"2020","journal-title":"Value in Health."},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.5281\/zenodo.5163859","article-title":"First two years of reimbursed enzyme replacement therapy in the treatment of Fabry's disease in Poland [Data set].","author":"N Michal","year":"2021","journal-title":"Zenodo."},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.5281\/zenodo.5163859","article-title":"First two years of reimbursed enzyme replacement therapy in the treatment of Fabry's disease in Poland.","author":"M 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Jaroszynski, Department of Nephrology, Collegium Medicum, Jan Kochanowski University of Kielce, Kielce, Poland, 25 Oct 2021, version 2, indexed","URL":"https:\/\/f1000research.com\/articles\/10-841\/v2#referee-response-97665","order":0,"name":"referee-response-97665","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"10.5256\/f1000research.78579.r97666, Bojan Vujkovac, Centre for Fabry Disease, General Hospital Slovenj Gradec, Slovenj Gradec, Slovenia, 01 Nov 2021, version 2, indexed","URL":"https:\/\/f1000research.com\/articles\/10-841\/v2#referee-response-97666","order":1,"name":"referee-response-97666","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"The author(s) declared that no grants were involved in supporting this work","order":2,"name":"grant-information","label":"Grant Information"},{"value":"This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.","order":0,"name":"copyright-info","label":"Copyright"}]}}