Research from the UVA School of Medicine suggests how a newly developed gene therapy can treat Dravet syndrome, a severe form of epilepsy, and potentially prolong survival for people with the condition.
The gene therapy, developed by Stoke Therapeutics, is now in clinical trials. Because most Dravet syndrome cases are caused by a mutation in the SCN1A gene, resulting in a reduction in SCN1A protein production, the novel approach is designed to boost production of SCN1A to normal levels. If successful, the approach, called Targeted Augmentation of Nuclear Gene Output, or TANGO, would be the first treatment for the fundamental cause of the disease, a lack of this particular protein in specialized brain cells.
The new research – from UVA’s Manoj K. Patel, PhD, and Eric R. Wengert, PhD, and their collaborators – demonstrates how the experimental therapy restores the cells’ proper function and reduces seizures in lab mice.
“Our results show that a single treatment with the TANGO approach into infant mice completely prevented seizures and the premature death typically seen in our mouse model of Dravet syndrome,” said Patel, of UVA’s Department of Anesthesiology. “Further, our study provides the first evidence that TANGO treatment actually targets and rescues the physiological impairment of one group of brain cells known to cause seizures in Dravet syndrome.”