REPLACEMENT THERAPY WITH IMIGLUCERASE FOR TYPE-1 GAUCHERS-DISEASE

Gaucher's disease, the most common sphingolipidosis, is caused by defi ciency of the lysosomal enzyme glucocerebrosidase. Therapy with algluc erase (the placental enzyme) is safe and effective at various dosing r egimens. We report the use of low-dose imiglucerase (the recombinant e nzyme) at two dosing schedules: 15 u/kg once fortnightly or 2.5 u/kg t hrice weekly. Mean reductions in spleen and liver volumes achieved (in all ten patients) by imiglucerase at 12 months were 36.4% and 14.5%, respectively; mean increase in haemoglobin and platelet counts were 13 .4% and 25.7%. There were no serious side-effects. No significant diff erences were observed between the two schedules. Low-dose low-frequenc y imiglucerase may be an alternative cost-effective approach with sati sfactory clinical response and uncompromised quality of life.