Gene Therapy Appears to Stabilize Symptoms in Infant Tay-Sachs Disease Patient

According to a story from WBUR, a preliminary evaluation of a young patients diagnosed with Tay-Sachs disease appears to show some encouraging signs. Two patients were treated with an experimental gene therapy and as of this writing, the youngest patient isn’t displaying any of the typical signs of disease progression. Considering that this disease has the potential to be fatal in just the first few years of life, these observations could be the first signs of a major treatment breakthrough.

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.

Encouraging Signs

One of the patients was treated at just seven months old; an MRI of this baby’s brain isn’t showing any of the typical indicators of the disease that normally appear. With these remarkable findings, plans for a more involved clinical trial that will include at least twelve patients are in the works. The two patients had the gene therapy administered directly in the brain. The older patient, who had more advanced disease and was over two years old, showed signs of biochemical activity from the treatment but no clinical changes. This suggests that the gene therapy is most beneficial before severe symptoms appear.

In the case of the younger patient, the researchers were quick to point out that while she was not displaying normal disease progression, the patient still was not seeing normal rates of movement development. Nevertheless, these early results are promising sign of hope for improving treatment of Tay-Sachs disease.


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