Considerations for Home-Based Treatment of Fabry Disease in Poland during the COVID-19 Pandemic and Beyond

Nowicki, Michał; Bazan-Socha, Stanisława; Kłopotowski, Mariusz; Błażejewska-Hyżorek, Beata; Kusztal, Mariusz; Pawlaczyk, Krzysztof; Sławek, Jarosław; Oko, Andrzej; Oko−Sarnowska, Zofia

doi:10.3390/ijerph18168242

Cited by 5 publications

(4 citation statements)

References 37 publications

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“…Similar results were reported by others [ 19 , 20 ]. Home-based treatment was suggested as a viable option to prevent treatment disruptions [ 19 , 21 ]. The effects of temporary discontinuation of ERT were studied in other LSDs such as Gaucher disease [ 22 , 23 ].…”

Section: Discussionmentioning

confidence: 99%

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The impact of the COVID-19 pandemic on Fabry Disease Patients: an examination of Mood Status, Therapy Adherence, and COVID-19 infection

Karaca

Dinçer

Özcan

et al. 2022

Orphanet J Rare Dis

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Background Fabry disease (FD) is a rare metabolic disorder, in which a lifelong enzyme replacement therapy (ERT) constitutes the cornerstone of disease-specific therapy. In this study, we examined the effects of the COVID-19 pandemic and lockdown measures on the management of FD patients. Methods We collected data in three main domains; mood status, adherence to ERT, and COVID-19 infection. We used the Hospital Anxiety and Depression Scale (HADS) to evaluate the mood statuses of FD patients and the Morisky Medication Adherence Scale (MMAS) and the Medication Adherence Report Scale (MARS) to assess patients’ adherence to non-disease specific therapy. We also examined a control group to compare the mood status data. Results A total of 67 FD patients (males: 47.8%, mean age: 37.0 years) were recruited to the study, of which 58 were receiving ERT. Both the HADS depression and anxiety scores were higher in the control group compared to FD patients. During the first wave of the pandemic, 25 patients reported to have missed an infusion for a mean of 2.3 ± 1.7 doses and half of the patients had adopted a home-based infusion treatment regimen. COVID-19 infection developed in 25 patients, of which one died. The majority of our patients (71.6%) have had at least one shot of the vaccine. Conclusion We found that FD patients were more resilient to the negative psychological effects of lockdown. Traumatic growth may be an important factor in explaining this finding. Government-supported home therapy programs might be beneficial for FD patients to increase the therapy adherence.

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Section: Discussionmentioning

confidence: 99%

“…Obviously, social security-based regulations might provide a better means for home-based therapy. There are different regulations across Europe regarding home-based ERT in FD patients [ 21 , 26 ]. Especially, experience from Italy shows favorable effects of this modality in FD patients [ 27 ].…”

Section: Discussionmentioning

confidence: 99%

The impact of the COVID-19 pandemic on Fabry Disease Patients: an examination of Mood Status, Therapy Adherence, and COVID-19 infection

Karaca

Dinçer

Özcan

et al. 2022

Orphanet J Rare Dis

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“…We consider this centralized system of FD care to be effective, with highly satisfactory access to correct diagnostics, follow-ups, and therapy. Some smaller countries in Europe, including Slovenia, the Czech Republic, Lithuania, and Hungary, have centralized FD patient care systems, with a single specialized national centre in each country [ 67 ].…”

Section: Discussionmentioning

confidence: 99%

Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment

Juríčková

Jungová

Petrovič

et al. 2022

JPM

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Fabry disease (FD, OMIM#301500) is a rare inborn error of the lysosomal enzyme α-galactosidase (α-Gal A, EC 3.2.1.22) and results in progressive substrate accumulation in tissues with a wide range of clinical presentations. Despite the X-linked inheritance, heterozygous females may also be affected. Hemizygous males are usually affected more severely, with an earlier manifestation of the symptoms. Rising awareness among health care professionals and more accessible diagnostics have positioned FD among the most-common inherited metabolic diseases in adults. An early and correct diagnosis of FD is crucial with a focus on personalised therapy. Preventing irreversible destruction of vital organs is the main goal of modern medicine. The aim of this study was to offer a complex report mapping the situation surrounding FD patients in Slovakia. A total of 48 patients (21 males, 27 females) with FD are registered in the Centre for Inborn Errors of Metabolism in Bratislava, Slovakia. In our cohort, we have identified three novel pathogenic variants in five patients. Three patients presented with the frameshift mutation c.736delA, and two others presented with the missense mutations c.203T>C, c.157A>C. Moreover, we present a new clinical picture of the pathogenic variant c.801+1G>A, which was previously described and associated with the renal phenotype.

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“…However, due to X-chromosome inactivation, also called "lyonization", some women can be as severely affected by FD as men (Izhar et al, 2023). The main FD-specific treatments are enzyme replacement therapy (Oder et al, 2016) and chaperone therapy for patients with amenable mutations (Nowicki et al, 2024). There are also some other FD treatments in development, such as substrate reduction therapy and gene therapy (Palaiodimou et al, 2023;Umer & Karla, 2023).…”

Section: Introductionmentioning

confidence: 99%

Analysis of Globotriaosylceramide (Gb₃) in Liquid Urine: A Straightforward Assay Using Tandem Mass Spectrometry

Boutin,

Maranda,

Waters

2024

Current Protocols

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Fabry disease (FD) is a lysosomal storage disorder caused by variants in the GLA gene encoding α‐galactosidase A, an enzyme required for catabolism of globotriaosylceramide (Gb3). Accumulation of Gb3 in patients’ cells, tissues, and biological fluids causes clinical manifestations including ventricular hypertrophy, renal insufficiency, and strokes. This protocol describes a methodology to analyze urinary Gb3 and creatinine. Samples are diluted with an internal standard solution containing Gb3(C17:0) and creatinine‐D3, centrifuged, and directly analyzed by ultra‐high performance liquid chromatography coupled to tandem mass spectrometry (UHPLC‐MS/MS) using an 8.7‐min method. Eight Gb3 isoforms [C16:0, C18:0, C20:0, C22:1, C22:0, C24:1, C24:0, and (C24:0)OH] are analyzed and the total is normalized to creatinine. Confirmation ions are monitored to detect potential interferences. The Gb3 limit of quantification is 0.023 µg/ml. Its interday coefficients of variation (3 concentrations measured) are ≤15.4%. This method minimizes matrix effects (≤6.5%) and prevents adsorption or precipitation of Gb3. Urine samples are stable (bias <15%) for 2 days at 21°C, 7 days at 4°C, and 4 freeze/thaw cycles, whereas prepared samples are stable for 5 days at 21°C, and 14 days at 4°C. The Gb3/creatinine age‐related upper reference limits (mean + 2 standard deviations) are 29 mg/mol creatinine (<7 years) and 14 mg/mol creatinine (≥7 years). This simple, robust protocol has been fully validated (ISO 15189) and provides a valuable tool for diagnosis and monitoring of FD patients. © 2024 The Authors. Current Protocols published by Wiley Periodicals LLC.Basic Protocol: Analysis of urinary globotriaosylceramide (Gb3) and creatinine by UHPLC‐MS/MSSupport Protocol 1: Preparation of the urinary quality controlsSupport Protocol 2: Preparation of the urine matrix used for the Gb3 calibration curveSupport Protocol 3: Preparation of the Gb3 calibratorsSupport Protocol 4: Preparation of the working solution containing the internal standardsSupport Protocol 5: Preparation of the creatinine calibratorsSupport Protocol 6: Preparation of the UHPLC solutions and mobile phases

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Considerations for Home-Based Treatment of Fabry Disease in Poland during the COVID-19 Pandemic and Beyond

Cited by 5 publications

References 37 publications

The impact of the COVID-19 pandemic on Fabry Disease Patients: an examination of Mood Status, Therapy Adherence, and COVID-19 infection

The impact of the COVID-19 pandemic on Fabry Disease Patients: an examination of Mood Status, Therapy Adherence, and COVID-19 infection

Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment

Analysis of Globotriaosylceramide (Gb₃) in Liquid Urine: A Straightforward Assay Using Tandem Mass Spectrometry

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Considerations for Home-Based Treatment of Fabry Disease in Poland during the COVID-19 Pandemic and Beyond

Cited by 5 publications

References 37 publications

The impact of the COVID-19 pandemic on Fabry Disease Patients: an examination of Mood Status, Therapy Adherence, and COVID-19 infection

The impact of the COVID-19 pandemic on Fabry Disease Patients: an examination of Mood Status, Therapy Adherence, and COVID-19 infection

Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment

Analysis of Globotriaosylceramide (Gb3) in Liquid Urine: A Straightforward Assay Using Tandem Mass Spectrometry

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Product

Resources

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Analysis of Globotriaosylceramide (Gb₃) in Liquid Urine: A Straightforward Assay Using Tandem Mass Spectrometry