An open randomised study comparing efficacy of maintenance therapy with imiglucerase at a frequency of once every four weeks versus the original schedule (once every one or two weeks) in adult type I Gaucher disease patients.

Gaucher disease type I can be successfully treated with enzyme replacement therapy. In order to reduce the burden of the intravenously administered enzyme, low frequency of infusion will be prospectively studied in patients with stable and minor disease following ERT. Patients will be randomly assigned to continue their original regimen (in a once every week or fortnightly schedule) or to lower the rate of infusion to once every four weeks, at the same cumulative dose. Primary endpoint is change in liver ratio (ml/kg body weight) and secondary endpoints are spleen volume, haemoglobin level, platelet count, lumbar bone marrow fat content measured with QCSI, white cell count, and plasma levels of ferritin, chitotriosidase, liver enzymes and angiotensin converting enzyme (ACE).

To compare the efficacy of maintenance therapy with an equal monthly dose of imiglucerase when administered at a frequency of once every four weeks versus once every one or two weeks, in adult type I Gaucher disease patients in stable and good condition during a minimum of two years on enzyme supplementation therapy.

N/A

Lowering of the frequency of enzyme replacement therapy to once every four weeks.