Two Children Get First-Ever Treatment for This Deadly Disease

Two children in the United States have received the first-ever gene therapy for Tay-Sachs disease — and the effects have proven to be promising!

An often deadly diagnosis, Tay-Sachs is a rare neurological disease, caused by a deficiency in an enzyme called HexA. It most often affects babies and young children and currently has no treatment. Perhaps until now: a group of researchers from UMass Chan Medical School and Auburn University has developed a gene therapy that allows for two harmless viral vectors to deliver DNA instructions to brain cells in order to teach them how to produce the missing HexA enzyme. 

After successful trials of the new gene therapy on animals, the researchers set out to treat two children, aged seven months and two and a half years.“The first child who received our gene therapy treatment was age 2.5, with late-stage disease symptoms. Three months after treatment, they had better muscle control and could focus their eyes, Now at age 5, the child is in stable health and is seizure-free, which usually isn’t possible for patients at this age,” writes associate professor of neurology at UMass Chan Medical School Miguel Sena-Esteves. 

Without the generous funding from a family whose own child was a participant, Sena-Esteves emphasized, this study would not have been possible. The future for the young victims of Tay-Sachs disease looks brighter than ever.