Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease.

TLDR

Enzyme replacement has been considered for Gaucher disease for over two decades, with earlier studies showing single glucocerebrosidase injections reduce hepatic storage material. The study aimed to assess whether regular administration of exogenous glucocerebrosidase provides clinical benefit. Weekly IV infusions of macrophage‑targeted human placental glucocerebrosidase in a child with type 1 Gaucher raised hemoglobin and platelet counts, reduced splenic phagocytic activity, and improved skeletal radiographs, demonstrating objective clinical responses.

Abstract

Enzyme replacement has been under consideration as a therapeutic strategy for patients with Gaucher disease for more than two decades. Previous studies indicated that single injections of purified glucocerebrosidase reduced the amount of storage material in the liver. It was important to determine whether administration of exogenous enzyme on a regular basis would be of clinical benefit. We report here that weekly i.v. infusions of a macrophage-targeted preparation of human placental glucocerebrosidase in a child with type 1 Gaucher disease increased hemoglobin from 6.9 +/- 0.8 g/dl (+/- 1 SD) to 10.2 +/- 0.4 g/dl (+/- 1 SD) over a 20-week period. The platelet count also increased from a pretreatment value of 30,000 +/- 7000/mm3 (+/- 1 SD) to 54,000 +/- 11,000/mm3 (+/- 1 SD). Phagocytic activity in the spleen decreased during the period of enzyme administration, and there was radiographic evidence of skeletal improvement. These observations document objective clinical responses to enzyme supplementation in a patient with a sphingolipid storage disorder.