Fabry disease in Poland

Bazan-Socha, Stanisława; Kuczia, Pawel; Musiał, Jacek; Błażejewska-Hyżorek, Beata

doi:10.20452/pamw.4342

Cited by 3 publications

(2 citation statements)

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“…Prior to 2019, most FD patients received ERT either in clinical trials or as a part of a compassionate drug therapy program provided by the pharmaceutical companies. 2 At present, no patients in Poland receive home-based ERT.…”

Section: Introductionmentioning

confidence: 99%

Is home-based therapy in Fabry disease the answer to compelling patients’ needs during the COVID-19 pandemic? Survey results from the Polish FD Collaborative Group

Kusztal¹,

Kłopotowski²,

Bazan-Socha³

et al. 2021

Adv Clin Exp Med

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Section: Introductionmentioning

confidence: 99%

Is home-based therapy in Fabry disease the answer to compelling patients’ needs during the COVID-19 pandemic? Survey results from the Polish FD Collaborative Group

Kusztal¹,

Kłopotowski²,

Bazan-Socha³

et al. 2021

Adv Clin Exp Med

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“…Initially, one of the major challenges in the treatment of FD in Poland was a lack of guidelines for diagnosis and management of the disease. 12 In 2020, an interdisciplinary group of Polish clinicians prepared a comprehensive position statement providing practical recommendations for physicians who treat patients with FD. The position statement was approved by the Boards of the Polish Cardiac Society, Polish Society of Inborn Errors of Metabolism, Polish Society of Internal Medicine, Polish Society of Nephrology, and Polish Society of Neurology.…”

mentioning

confidence: 99%

First two years of reimbursed enzyme replacement therapy in the treatment of Fabry disease in Poland

et al. 2021

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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, Kraków, Wrocław, Poznań, Gdańsk, Warszawa, 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.

show abstract

First two years of reimbursed enzyme replacement therapy in the treatment of Fabry disease in Poland

et al. 2021

View full text Add to dashboard Cite

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.

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Fabry disease in Poland

Cited by 3 publications

References 0 publications

Is home-based therapy in Fabry disease the answer to compelling patients’ needs during the COVID-19 pandemic? Survey results from the Polish FD Collaborative Group

Is home-based therapy in Fabry disease the answer to compelling patients’ needs during the COVID-19 pandemic? Survey results from the Polish FD Collaborative Group

First two years of reimbursed enzyme replacement therapy in the treatment of Fabry disease in Poland

First two years of reimbursed enzyme replacement therapy in the treatment of Fabry disease in Poland

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