AAV9-GBA is an experimental gene therapy designed to potentially treat Gaucher disease, a genetic condition caused by mutations in the GBA gene. The therapy, being developed by researchers at University College London in collaboration with Apollo Therapeutics, uses a harmless virus called AAV9 to deliver a functional copy of the GBA gene into cells to replace the mutated form.

How AAV9-GBA works

The goal of AAV9-GBA is to permanently treat the symptoms of Gaucher disease. Among all the AAV types, AAV9 has the highest efficacy in targeting multiple organs and can easily cross the blood-brain barrier. It is hoped that once inside the cell, the normal GBA gene will be able to produce a fully functioning glucocerebrosidase (Gcase) enzyme. This enzyme is not made properly in Gaucher disease patients, causing the accumulation of a fat molecule called glucocerebroside to toxic levels inside cells.

AAV9-GBA in clinical trials

The efficacy of AAV9-GBA was studied in a mouse model of Gaucher disease in which the GBA gene was completely deleted to mimic the symptoms of the disease.

The study found that AAV9-GBA was active in all organs of the mice including the brain. When delivered 30 or 15 days before the onset of Gaucher symptoms, GCase activity was found to be increased along with improved motor function and longevity. For the neuronal form of Gaucher disease, AAV9-GBA was administered five days after birth, which restored GCase activity in the brain and improved brain function.

While other gene therapy methods for Gaucher disease such as AVR-RD-02 are already undergoing clinical testing, gene therapy using AAV9 vectors is still in preclinical stages of development, and further studies are needed before clinical trials can begin.


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