Gene therapy brings new hope for Tay-Sachs disease

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Tay-Sachs disease, a devastating congenital error in metabolism of central nervous system fats, is caused by a rare genetic mutation. It usually leads to death by the age of four. Marked by little or no movement or trouble swallowing around age six months, children with Tay-Sachs also exhibit frequent seizures and the loss of hearing and sight.

But Dr. Burton Feinerman, formerly of the Mayo Clinic, teamed up with Dr. Javier Paino, who trained at Mt. Sinai Hospital Medical School in New York, to initiate a novel gene treatment in three children with Tay-Sachs at the Concebir Clinic in Lima, Peru. After receiving neuron stem cells with a normal copy of the aberrant Tay-Sachs gene, the children displayed improvements in motor function, an increase in muscle tone, more swallowing and fewer seizures.

The physicians plan to repeat the therapy again within the next three months, which comes as welcome news. “When you’re talking about Tay-Sachs, you’re on a fairly steep hill down to major disability and death. With no alternative treatments available, any treatment would be a miracle, so I’m excited to see how long this improvement in function will last,” says ACSH's Dr. Gilbert Ross.