Ethical considerations for enzyme replacement therapy in neuronopathic Gaucher disease

Abstract

Enzyme replacement therapy for Gaucher diseases, the most prevalent lysosmal storage disease, was originally approved by the FDA for type I patients and has proven to be both safe and effective in reducing hepatosplenomegaly and improving the hematological parameters. However, the use of enzyme treatment in both neuronopathic forms has heretofore been on an investigational or trial basis, with reports of progression of neurological deterioration even at very high doses. To date, there are no guidelines for clinicians with regard to enzyme replacement therapy in the neuronopathic forms of metabolic diseases. Herein. we discuss strategies derived from the literature vis-à-vis treatment of very premature babies and from the Jewish Halachic point of view. In conclusion. we describe recommendations for the ethical treatment and/or withdrawal of treatment, as well as practical guidelines for dosage regimens, in children with neuronopathic Gaucher disease.