Tay-Sachs disease is a rare, genetic and sadly fatal condition. It’s a neurodegenerative disorder caused by an impaired production of the β-Hexosaminidase A enzyme (HEXA). Symptoms of this condition include listlessness, diminishing muscle tone, hearing loss, vision loss, seizures, dementia, and eventual paralysis.
Gene therapy has been in development for this condition for quite some time but Axovant has just announced that they have administered the very first potential gene therapy treatment to a child with Tay-Sachs disease.
Perhaps even more noteworthy, the study examining this therapy has so far indicated safety, tolerability, and renewed functional activity of HEXA. While this gene therapy is still in the early stages of development, these positive results have brought increased hope to this patient community.
This study is being conducted collaboratively between researchers at the UMass Medical School and Auburn University.
The therapy they are investigating is called AXO-AAV-GM2. GM2 refers to GM2 gangliosidosis, otherwise known as Sandhoff disease and Tay-Sachs disease. This gene therapy works to provide patients a functioning copy of their impaired genes by using two AAVrh8 vectors.
The latest update from this study was at the three-month mark. A 30-month-old patient diagnosed with Tay-Sachs disease was given a 1.0x 1014 vg dose of the gene therapy into both the lumbar spinal canal and the cisterna magna. Researchers expect that patients who have less advanced stages of the disease who participate in this study later on will be able to additionally receive the therapy into the thalamus.
Three Month Results
- No serious AEs reported
- The therapy was generally well-tolerated
- No laboratory abnormalities
- The participant was in stable clinical condition
- Enzyme activity within the cerebrospinal fluid increased from .46% of normal to 1.44% of normal
- Activity of HEXA was increased at each and every time point
Further evaluation is still certainly needed, but these preliminary results are exciting for this patient population with a high unmet need.
You can read more about this investigative gene therapy and the 3-month update on this study here.