Enzyme replacement therapy for Gaucher disease in Australia

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dc.contributor.authorGoldblatt, J.
dc.contributor.authorSzer, J.
dc.contributor.authorFletcher, J.
dc.contributor.authorMcGill, J.
dc.contributor.authorRowell, J.
dc.contributor.authorWilson, M.
dc.date.issued2005
dc.descriptionGaucher disease; enzyme replacement; inherited; metabolic.
dc.description.abstract<h4>Aim</h4>To study the effectiveness of a specific national programme of enzyme replacement therapy (ERT) for patients with severe forms of Gaucher disease, a disorder of sphingolipid metabolism resulting from an inherited deficiency of the lysosomal enzyme beta-Glucocerebrosidase.<h4>Methods</h4>Prospective analysis of data submitted at entry and every 6 months on therapy. The responses of haemoglobin (Hb) and platelet (plt) concentrations, liver and spleen volumes were assessed.<h4>Patients</h4>Forty-eight patients were treated with ERT for a minimum of 6 months. Forty patients had Type 1 disease and eight had Type 3B. The age range was 1-70 years (median 24 years). Duration of therapy at the time of analysis was 6-114 months.<h4>Results</h4>Thirty-six per cent of patients started with a normal Hb increasing to 76% after 6 months. The mean improvement in Hb from baseline to the end of study period was 20 g/L, when the Hb was normal in 85% (41 patients). Thirty per cent of patients had a normal plt count at the start of therapy, with a more gradual increase in the count at 6 monthly intervals of 50, 91, 108 and 142% of starting value. Seventy-five per cent of patients had a normal plt count at the end of study. Spleen volumes reduced by a mean of 56% in 33 evaluable patients, and the liver by 27% in 30 of 38 evaluable patients. Eight patients had an increase in liver volume of 28%.<h4>Conclusion</h4>Enzyme replacement therapy produced a spectrum of beneficial responses in patients with Gaucher disease, but all had some evidence of reversal of haematological complications and/or reduction in visceromegaly. Future analyses will examine the effect of therapy on bone disease, prepubertal growth and quality of life.
dc.description.statementofresponsibilityJ. Goldblatt, J. Szer, J. M. Fletcher, J. McGill, J. A. Rowell and M. Wilson
dc.identifier.citationInternal Medicine Journal, 2005; 35(3):156-161
dc.identifier.doi10.1111/j.1445-5994.2004.00765.x
dc.identifier.issn1444-0903
dc.identifier.issn1445-5994
dc.identifier.urihttp://hdl.handle.net/2440/17334
dc.language.isoen
dc.publisherBlackwell Publishing Asia
dc.source.urihttps://doi.org/10.1111/j.1445-5994.2004.00765.x
dc.subjectLiver
dc.subjectSpleen
dc.subjectBlood Cells
dc.subjectFibroblasts
dc.subjectHumans
dc.subjectGaucher Disease
dc.subjectGlucosylceramidase
dc.subjectHemoglobins
dc.subjectTomography, X-Ray Computed
dc.subjectMagnetic Resonance Imaging
dc.subjectPlatelet Count
dc.subjectTreatment Outcome
dc.subjectDrug Therapy, Combination
dc.subjectInfusions, Intravenous
dc.subjectDrug Administration Schedule
dc.subjectFollow-Up Studies
dc.subjectProspective Studies
dc.subjectGenotype
dc.subjectMutation
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAged
dc.subjectMiddle Aged
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectInfant
dc.subjectFemale
dc.subjectMale
dc.titleEnzyme replacement therapy for Gaucher disease in Australia
dc.typeJournal article
pubs.publication-statusPublished

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