AVROBIO uses hematopoietic stem cell (HSC) gene therapy to target the root cause of genetic disorders by introducing a functional copy of the affected gene into the patient’s own HSCs, with the goal of durably expressing the therapeutic protein throughout the body, including the CNS. This is especially important for lysosomal disorders with CNS manifestations, like Gaucher disease, cystinosis, Hunter syndrome and Pompe disease.
We apply this approach in our Gaucher disease program by introducing a functional copy of the GBA gene into the patient’s HSCs, or blood stem cells. These genetically modified blood stem cells are designed to generate a wide variety of cells that travel throughout the body. All of these daughter cells are expected to carry the functional gene necessary to produce the therapeutic GCase enzyme needed for healthy cellular function.
Current Gaucher disease standard of care, known as enzyme replacement therapy (ERT), does not treat the root genetic cause of disease, but supplements the missing GCase enzyme. ERT does not cross the blood-brain barrier (BBB) to break down fatty acids in the CNS or improve clinical symptoms in the brain. In contrast, HSC gene therapy is designed to produce corrected monocytes, a cell type which can cross the BBB to enter the brain and spinal cord, and generate cells that are expected to produce the needed therapeutic protein throughout the body. Learn more about how HSC gene therapy reaches the whole body.