First two years of reimbursed enzyme replacement therapy in the treatment of Fabry disease in Poland [version 2; peer review: 2 approved]
Fabry disease (FD) is an ultra-rare genetic lysosomal storage disease caused by pathologic gene variants resulting in insufficient expression of α-galactosidase A. This enzyme deficiency leads to accumulation of globotriaosylceramide and globotriaosylsphingosine in plasma and in different cells thro...
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F1000 Research Ltd
2021
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oai:doaj.org-article:8f9bce18977c489b93edd6aaf63201e92021-11-08T10:53:47ZFirst two years of reimbursed enzyme replacement therapy in the treatment of Fabry disease in Poland [version 2; peer review: 2 approved]2046-140210.12688/f1000research.55313.2https://doaj.org/article/8f9bce18977c489b93edd6aaf63201e92021-10-01T00:00:00Zhttps://f1000research.com/articles/10-841/v2https://doaj.org/toc/2046-1402Fabry disease (FD) is an ultra-rare genetic lysosomal storage disease caused by pathologic gene variants resulting in insufficient expression of α-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. 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, Wrocław, Poznań, Gdańsk, Warsaw, and Łódź. The questionnaire included the following data: number of patients treated, number of patients qualified for ERT, and patient characteristics. 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. 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.Michał NowickiMonika KomarMariusz KusztalKatarzyna Mizia-StecTomasz LiberekJolanta MałyszkoKatarzyna Muras-SzwedziakKrzysztof PawlaczykPiotr PodolecJarosław SławekF1000 Research LtdarticleMedicineRScienceQENF1000Research, Vol 10 (2021) |
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Medicine R Science Q Michał Nowicki Monika Komar Mariusz Kusztal Katarzyna Mizia-Stec Tomasz Liberek Jolanta Małyszko Katarzyna Muras-Szwedziak Krzysztof Pawlaczyk Piotr Podolec Jarosław Sławek First two years of reimbursed enzyme replacement therapy in the treatment of Fabry disease in Poland [version 2; peer review: 2 approved] |
| description |
Fabry disease (FD) is an ultra-rare genetic lysosomal storage disease caused by pathologic gene variants resulting in insufficient expression of α-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. 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, Wrocław, Poznań, Gdańsk, Warsaw, and Łódź. The questionnaire included the following data: number of patients treated, number of patients qualified for ERT, and patient characteristics. 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. 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. |
| format |
article |
| author |
Michał Nowicki Monika Komar Mariusz Kusztal Katarzyna Mizia-Stec Tomasz Liberek Jolanta Małyszko Katarzyna Muras-Szwedziak Krzysztof Pawlaczyk Piotr Podolec Jarosław Sławek |
| author_facet |
Michał Nowicki Monika Komar Mariusz Kusztal Katarzyna Mizia-Stec Tomasz Liberek Jolanta Małyszko Katarzyna Muras-Szwedziak Krzysztof Pawlaczyk Piotr Podolec Jarosław Sławek |
| author_sort |
Michał Nowicki |
| title |
First two years of reimbursed enzyme replacement therapy in the treatment of Fabry disease in Poland [version 2; peer review: 2 approved] |
| title_short |
First two years of reimbursed enzyme replacement therapy in the treatment of Fabry disease in Poland [version 2; peer review: 2 approved] |
| title_full |
First two years of reimbursed enzyme replacement therapy in the treatment of Fabry disease in Poland [version 2; peer review: 2 approved] |
| title_fullStr |
First two years of reimbursed enzyme replacement therapy in the treatment of Fabry disease in Poland [version 2; peer review: 2 approved] |
| title_full_unstemmed |
First two years of reimbursed enzyme replacement therapy in the treatment of Fabry disease in Poland [version 2; peer review: 2 approved] |
| title_sort |
first two years of reimbursed enzyme replacement therapy in the treatment of fabry disease in poland [version 2; peer review: 2 approved] |
| publisher |
F1000 Research Ltd |
| publishDate |
2021 |
| url |
https://doaj.org/article/8f9bce18977c489b93edd6aaf63201e9 |
| work_keys_str_mv |
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