Low‐dose high‐frequency enzyme replacement therapy for very young children with severe Gaucher disease

Abstract

Summary Six children with a mean age of 4.6 years (range 2.5–7). suffering from severe Gaucher disease, were treated with low-dose high-frequency intravenous enzyme replacement (Ceredasea®. Genzyme. U.S.A.) for a period of 10–24 months. Although, in general, these patients were more severely affected than previously reported patients, the results of the treatment were as satisfactory as those obtained by using much higher doses at low frequency. In addition to regression of organomegaly and improvement of haematological abnormalities, we observed two unique clinical responses in three patients: two showed decreased tendency to bacterial infections, associated with improvement in neutro-phil chemotaxis, and one patient, with type 3 Gaucher disease, showed some improvement in neurological findings. Several measures were taken to ameliorate the burden of the high-frequency treatment. These included implantation of venous access devices, establishment of a home-treatment programme and the application of effective local anaesthesia. Therefore the low-dose high-frequency protocol appears to be both an effective and feasible alternative to the costly high-dose low-frequency protocols even in very young children.