Neuronopathic Gaucher disease is a severe condition caused by mutations in the GBA1 gene, leading to the accumulation of glucocerebroside in the brain and other organs, resulting in significant neurological complications.

Current treatments for Gaucher disease, such as enzyme replacement and substrate reduction therapies, fail to effectively address the neurological symptoms because they do not reach the brain.

A recent study has introduced a promising new gene therapy that delivers a healthy GBA1 gene along with the GDNF gene to brain cells, showing potential to ease neurological issues and extend survival in a mouse model of the disease.

This innovative dual gene therapy approach aims to improve glucocerebrosidase enzyme production through the functional GBA1 gene and enhance nerve cell survival and protection via the GDNF gene.

The therapy not only increased levels of neurotrophic factors but also reduced markers of neuronal cell death and inflammation, indicating a protective effect on nerve cells.

In experimental trials, a single injection of the gene therapy significantly improved motor abilities, protected against brain tissue loss, and extended the lifespan of treated mice.

Importantly, the gene therapy was found to be safe, with no significant immune or inflammatory reactions observed in the treated mice.

Researchers are optimistic that this combination of restoring GCase expression and enhancing neuroprotective pathways could pave the way for new treatment strategies not only for neuronopathic Gaucher disease but also for other neurodegenerative diseases, including Parkinson’s disease.

The findings of this study were published in the journal Molecular Therapy Nucleic Acids, underscoring the innovative nature of this dual gene therapy approach.