Ethical considerations for enzyme replacement therapy in neuronopathic Gaucher disease

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Gaucher disease is a prevalent lysosomal storage disorder.
• Enzyme replacement therapy (ERT) is FDA-approved and effective for type I Gaucher disease, improving key clinical markers.
• ERT use in neuronopathic Gaucher disease remains investigational, with mixed results and no established clinical guidelines.

Purpose of the Study:

• To review existing literature on ERT for neuronopathic Gaucher disease.
• To explore treatment strategies considering premature infants and Jewish Halachic perspectives.
• To provide practical recommendations for ethical ERT and dosage regimens in children with neuronopathic Gaucher disease.

Main Methods:

• Literature review of ERT in Gaucher disease.
• Analysis of treatment strategies for premature neonates.
• Consideration of Jewish Halachic viewpoints on medical treatment.
• Development of clinical guidelines based on gathered information.

Main Results:

• ERT for type I Gaucher disease is safe and effective for non-neurological symptoms.
• Neurological deterioration has been reported in some neuronopathic Gaucher disease patients even with high-dose ERT.
• No established guidelines currently exist for ERT in neuronopathic forms.

Conclusions:

• Ethical considerations and practical guidelines are crucial for ERT in neuronopathic Gaucher disease.
• Recommendations cover treatment initiation, withdrawal, and specific dosage regimens for affected children.
• Further research is needed to optimize ERT efficacy in preventing neurological decline.