Enzyme replacement therapy for Gaucher disease in Australia.
OBJECTIVE
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.


METHODS
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.


METHODS
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.


RESULTS
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%.


CONCLUSIONS
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.
Goldblatt
J
J
Department of Paediatrics, University of Western Australia, Genetic Services of WA, King Edward Memorial Hospital, Perth, Western Australia. Jack.Goldblatt@health.wa.gov.au
Szer
J
J
Fletcher
J M
JM
McGill
J
J
Rowell
J A
JA
Wilson
M
M
D000293:Adolescent; D000328:Adult; D000368:Aged; D001773:Blood Cells / Q000201:enzymology; D002648:Child; D002675:Child, Preschool; D004334:Drug Administration Schedule; D004359:Drug Therapy, Combination; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005500:Follow-Up Studies; D005776:Gaucher Disease / Q000097:blood / Q000188:drug therapy* / Q000235:genetics; D005838:Genotype; D005962:Glucosylceramidase / Q000008:administration & dosage / Q000235:genetics / Q000378:metabolism / Q000627:therapeutic use*; D006454:Hemoglobins / Q000378:metabolism; D006801:Humans; D007223:Infant; D007262:Infusions, Intravenous; D008099:Liver / Q000000981:diagnostic imaging / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010976:Platelet Count; D011446:Prospective Studies; D013154:Spleen / Q000000981:diagnostic imaging / Q000473:pathology; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome
D006454:Hemoglobins; C070292:alglucerase; D005962:Glucosylceramidase; C090568:imiglucerase