Gaucher disease type 1 is a genetic disease in which there is improper metabolism due to a defect in an enzyme. It is characterized by enlargement of the spleen and liver, anemia, low blood platelets, chronic bone pain, and the failure to grow properly. The disease is a chronic and progressive disorder associated with disability, reduced life expectancy, and in some patients, life-threatening complications. The current line of treatment is enzyme replacement therapy, which requires lifelong intravenous infusions every other week.
Researchers of the Yale University School of Medicine, New Haven, Conn., randomly assigned 40 untreated adults with Gaucher disease type 1 to receive eliglustat (twice daily; n = 20) or placebo (n = 20) for 9 months. They found that administration of eliglustat resulted in a reduction in spleen volume of approximately 30 percent compared with placebo, as well as improvements in hemoglobin level, decreased liver volume (-6.6 percent), and increased platelet count (41 percent). However, the authors said that more definitive conclusions about clinical efficacy and utility will require comparison with the standard treatment of enzyme replacement therapy as well as longer-term follow-up.