Could This Gene Therapy be a Breakthrough Treatment for Tay-Sachs Disease?

According to a story from the Times of Israel, a team of researchers associated with the University of Massachusetts appear to have discovered a potential breakthrough in regards to the treatment of Tay-Sachs disease, a rare illness that is most often found among Ashkenazi Jews. In this group, the illness occurs in one of every 3,600 births. Early trial data that tested the gene therapy indicates that the treatment was able to stabilize the progression of the disease in two infants that were born with it.

About Tay-Sachs Disease

Tay-Sachs disease is a rare disorder which is characterized by the destruction of the nerve cells found in the brain and spinal cord. Although it can manifest a different ages, it most commonly appears in the first few months of life. This form of the disease is typically lethal. Tay-Sachs disease is typically the result of an inherited mutation that affects the HEXA gene, which is found on chromosome 15. The disease appears to be more common in certain populations, including French-Canadians, Ashkenazi Jews, Cajun groups of Louisiana, and a few others. Symptoms include an abnormal startle response, a distinct red spot on the retina, loss of movement abilities, paralysis, seizures, deafness, and blindness. Death often occurs before age four. There is a dire need for disease-modifying therapies for this illness. Possible future treatments include gene therapy, enzyme replacement, and substrate reduction therapy. To learn more about Tay-Sachs disease, click here.

Hope for a Treatment

The data findings revealed that the gene therapy was able to stabilize the progression of the disease without any signs of negative side effects or adverse events. These patients underwent a unique method of drug administration directly to the thalamus, an approach that had previously only been conducted on animal subjects. While potentially risky, it is easier to take such risks when dealing with a deadly rare disease. With these encouraging results, a clinical trial that will test the gene therapy on a greater scale is highly likely in the future. 

Hopefully the continued testing of this therapy will ultimately lead to the approval of the first ever treatment for Tay-Sachs disease.


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