Extraordinarily gratifying success has been obtained with enzyme replacement therapy in patients with Gaucher's disease. All patients who received macrophage-targeted human placental glucocerebrosidase had significant clinical benefit. The hemoglobin level rose in all patients, and within six months after initiation of therapy, the size of the spleen had decreased in all recipients. Long-term treatment was required to produce reversal of skeleton pathology. Patients who received the enzyme were able to resume activities such as work or school that they had been unable to carry out before enzyme replacement. The U.S. Food and Drug Administration has approved the use of macrophage-targeted glucocerebrosidase as specific therapy for patients with Type 1 Gaucher's disease. The beneficial effect of enzyme replacement in patients with Gaucher's disease has been repeatedly confirmed by many independent investigators. The quantity of enzyme that patients require to be maintained in good health is far less than that which is initially necessary to reverse the clinical and pathological manifestations of the disorder. Patients with milder clinical signs of the disorder improve with smaller amounts of enzyme than that required by more severely affected individuals. Recombinantly produced macrophages targeted glucocerebrosidase has been found to be as effective as the placental enzyme used in the original clinical efficacy trial.
