Abstract
Background: Enzyme replacement therapy (ERT) is the only approved therapy for Fabry disease. In June 2009, there was a worldwide shortage of agalsidase beta, necessitating dose reductions or switching to agalsidase alfa in some patients.
Case presentation: We present two cases of Fabry disease (a parent and a child) who received agalsidase beta for 27 months at the licensed dose and 10 months at a reduced dose, followed by a switch to agalsidase alfa for 28 months.
Case 1, a 26-year-old male had severe coughing and fatigue during ERT with agalsidase beta requiring antitussive and asthmatic drug therapy. After switching to agalsidase alfa, the coughing gradually resolved completely.
Case 2, a 62-year-old female had advanced cardiac manifestations at the time of diagnosis. Despite receiving ERT with the approved dose of agalsidase beta, she experienced aggravation of congestive heart failure and was hospitalized. After switching to agalsidase alfa with standard care in heart disease, BNP level, echocardiographic parameters, eGFR rate and lyso-Gb3 levels were improved or stabilized.
Conclusions: We report on two Fabry disease patients who experienced severe adverse events while on approved and/or reduced doses of agalsidase beta. Switching to agalsidase alfa associated with standard care in heart disease led to resolution or improvement in the cardiorespiratory status. And reduction in dose associated with standard care in respiratory disease was useful for decrease in cough and fatigue. Plasma BNP level was useful for monitoring heart failure and the effects of ERT.
Competing interests: None declared
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Acknowledgements and Funding
The authors wish to thank all patients who participated in this study. The authors acknowledge the contributions to this work by Associate Professor Kimitoshi Nakamura and Professor Fumio Endo of Kumamoto University and Dr. Norihiro Shinoda of Nagoya University. And the authors acknowledge the contributions by the determination of titre of antibody by Genzyme and Dainippon Sumitomo Pharma and lyso-Gb3 by Shire HGT.
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Communicated by: Marc Patterson
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Synopsis
Switching to agalsidase alfa can ameliorate adverse events experienced during treatment with agalsidase beta, while maintaining cardiac and renal function.
Conflict of Interest
Kazuya Tsuboi has received a speaker honorarium from Genzyme, Shire HGT and Dainippon Sumitomo Pharma.
Hiroshi Yamamoto has received a speaker honorarium from Genzyme.
Fuji Somura and Hiromi Goto declare that they have no conflict of interest.
Informed Consent
The study was approved by the institutional review boards and was conducted in accordance with the ethical provisions set out in the Helsinki Declaration of 1975 as revised in 2000, and all applicable local laws and regulations. Informed consent was obtained from all patients for being included in the study.
Animal Rights
This article does not contain any studies with human or animal subjects performed by any of the authors.
Details of the Contributions of Individual Authors
Kazuya Tsuboi contributed the planning, conduct and reporting of the work described in the article.
Hiroshi Yamamoto contributed conduct and reporting of the work.
Fuji Somura and Hiromi Goto contributed conduct for cardiovascular treatment to patients and checking the draft of report.
Author serving as guarantor for the article: Dr Kazuya Tsuboi
Details of funding: not applicable.
Competing interests statement: None
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Tsuboi, K., Yamamoto, H., Somura, F., Goto, H. (2014). Successful Management of Enzyme Replacement Therapy in Related Fabry Disease Patients with Severe Adverse Events by Switching from Agalsidase Beta (Fabrazyme®) to Agalsidase Alfa (Replagal®). In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports, Volume 15. JIMD Reports, vol 15. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2014_304
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DOI: https://doi.org/10.1007/8904_2014_304
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