Gaucher disease treatment
The identification of the pathophysiological cause of Gaucher's disease, the deficiency of the enzyme glucocerebrosidase, opened the door to the modern therapeutic approaches, all of which aim to reduce the symptoms of the disease and improve the quality of life of patients. Gaucher's disease was the first lysosomal storage disease in which the concept of enzyme replacement therapy (ERT) treatment was demonstrated to be successful. Today, ERT is the most widespread form of treatment and has permanently changed the course of illness and the lives of thousands of patients. Further research also found a treatment model by reducing the substrate, whereby blocking glucosylceramide synthase we prevent the formation of glucocerebroside and thus its accumulation. The latest efforts are focused on gene therapy of diseases, and the first research is already underway. Gene therapy offers the possibility of a one-time application of the drug, which would achieve a (long)lasting correction of the functional enzyme level, in fact a cure. Despite therapeutic successes, challenges such as availability, affordability and long-term safety remain, being a task for the future.
Key words:
enzyme replacement therapy; Gaucher disease; gene therapy; lysosomal storage disease; substrate reduction therapy