Enzyme replacement: A new therapeutic approach in Gaucher's disease

Until recently the treatment of lysosomal storage disorders was entirely supportive. A new enzyme replacement therapy has become available in Gaucher's disease, a lipid storage disorder that is due to a genetic defect ef β-glucocerebrosidase. Intravenous infusions of modified β-glucocerebrosidase has produced clinical improvement in Gaucher patients, with regression of organomegaly and increase in blood counts. At the Children's Hospital of Mainz 13 patients (6 children and 7 adults) were treated with alglucerase on a high-dosage regimen (60 units per kilogramm every two weeks). A decrease in liver and spleen size was observed 4 to 6 months after commencement of therapy. Hemoglobin and the number of platelets increased. In some cases, a reduction of the dosage was possible after a year of enzyme replacement-therapy. A growth spurt was observed in the children. The availability of enzyme replacement therapy is limited by its high cost; however, in the future gene transfer may become the treatment of choice.