Overview

Research Projects

Researchers are currently directing their efforts toward the development of improved and novel treatments. Studies are ongoing to determine the long-term safety and efficacy of enzyme therapy, indications for the treatment of Gaucher disease, and the value of treatment of asymptomatic patients.

Another area in which studies are now underway is the evaluation of bone marrow transplantation for the treatment of this disease. Although this approach can cure Gaucher disease, there is a high morbidity and mortality rate associated with this procedure; thus only severely affected patients who have histocompatible sibling donors have been considered for transplantation.

Gene therapy is another approach to the cure of Gaucher disease. By using any of several techniques, a normal gene for acid b-glucosidase can be inserted in to the somatic cells of Gaucher disease patients to correct the inherited enzyme defect. The basic strategy involves the retrieval of stem cells from the patient through either bone marrow harvesting or extraction from peripheral blood, and the subsequent introduction of the normal gene using a retroviral vector. Stem cells are blood cells with the ability to propagate continuously; thus, once the deficiency is corrected in these cells they become an internal and continual source of the enzyme.