Spotlighting Rare Diseases Research Blog

Sandhoff disease is a rare fatal condition caused by inherited changes in the HEXB gene. These changes lead to reduced amounts of certain enzymes in the cell’s recycling centers and, consequently, a harmful build-up of fatty substances that progressively damage cells in the brain and spinal cord, as well as other organs in the body. Sandhoff disease is very similar to Tay-Sachs disease, where children experience rapid deterioration of mental and motor functioning. Infants with Sandhoff disease usually do not live past 2 to 5 years old.

Miguel Sena-Esteves, PhD, an associate professor at the Li Weibo Institute for Rare Diseases Research at UMass Chan Medical School, has spent over a decade working on gene therapies for Tay-Sachs and Sandhoff diseases. Researchers had previously tried to treat both diseases by providing the missing enzyme into the bloodstream, but the enzymes were too large to cross from the bloodstream into the brain. Dr. Sena-Esteves has developed an innovative way to deliver therapeutic levels of the missing enzyme directly into the brain. Recently, an infant girl with Sandhoff disease became the first child in the world to receive a full dose of this new gene therapy at UMass Memorial Medical Center, in a clinical trial led by Terence Flotte, MD, dean of the UMass Chan Medical School.

See the full story featured in USA Today.