Effect of reduced agalsidase beta dosage in fabry patients: the Australian experience

Ghali, Joanna, Nicholls, Kathy, Denaro, Charles, Sillence, David, Chapman, Ian, Goldblatt, Jack, Thomas, Mark and Fletcher, Janice (2012). Effect of reduced agalsidase beta dosage in fabry patients: the Australian experience. In SSIEM (Ed.), JIMD Reports - Case and Research Reports, 2011/3 (pp. 33-43) Berlin, Germany: Springer. doi:10.1007/8904_2011_44

Author Ghali, Joanna
Nicholls, Kathy
Denaro, Charles
Sillence, David
Chapman, Ian
Goldblatt, Jack
Thomas, Mark
Fletcher, Janice
Title of chapter Effect of reduced agalsidase beta dosage in fabry patients: the Australian experience
Title of book JIMD Reports - Case and Research Reports, 2011/3
Place of Publication Berlin, Germany
Publisher Springer
Publication Year 2012
Sub-type Research book chapter (original research)
DOI 10.1007/8904_2011_44
Open Access Status Not yet assessed
Series JIMD Reports
ISBN 9783642249358
ISSN 2192-8304
Editor SSIEM
Volume number 3
Chapter number 6
Start page 33
End page 43
Total pages 11
Total chapters 20
Language eng
Formatted Abstract/Summary
Background: In Australia, enzyme replacement therapy (ERT) for Fabry Disease (FD), both Agalsidase alfa (Replagal, Shire HGT) and beta (Fabrazyme, Genzyme), is funded and monitored through a specific government program. Agalsidase beta supply has been rationed by Genzyme since 2009 due to manufacturing issues. Consequently, the Australian Fabry Disease Advisory Committee has treated patients on Agalsidase beta at 50% of their usual dose from mid-2009, with a further reduction to 30% for some patients from late 2009.

Aim: To determine the clinical effect of Agalsidase beta dose reduction in the Australian FD patient cohort.

A questionnaire assessing FD symptoms was administered to 40 patients on long-term ERT. Clinical data from The Fabry Registry for patients receiving Agalsidase alfa or beta, for at least 2 years prior to the time of enforced Agalsidase beta dose reduction, were reviewed. Disease burden and quality of life (QOL) were graded using the Disease Severity Scoring System, Mainz Severity Score
Index, Brief Pain Inventory and Short Form 36 Health Survey at 2 years before dose reduction, at the time of dose reduction and at the most recent clinical review following dose reduction.

Results: Disease severity and QOL scores did not change between the ERT groups. Males on Agalsidase beta reported lower energy levels after dose reduction, while no change was reported by females on either product or by males on a stable dose of Agalsidase alfa.

This study suggests that energy levels in male patients worsen after dose reduction of Agalsidase beta.
Keyword Enzyme replacement therapy
Quality of life
Renal function
Antibody formation
Q-Index Code B1
Q-Index Status Confirmed Code
Institutional Status UQ

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