Epilepsy Research Boosts Case for New Gene Therapy
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."
Spain-Based Study: Epidyolex Safely Helps Prevent Seizures
The efficacy and safety of Epidiolex, an oral cannabidiol, in children and adults with Dravet syndrome and Lennox-Gastaut syndrome (LGS) were supported in a real-world setting, with benefits similar to those seen in previous clinical trials and expanded access programs (EAPs), a Spanish EAP study reported.
Gene Therapy Offers Hope for Severe Epilepsy
One of their recent studies found hyperexcitation of the neurons caused by tau protein build-up is a key driver of the progression of Alzheimer's disease.
Walking Difficulties With Dravet May Signal Limited Mobility
Children and adolescents with Dravet syndrome with walking difficulties commonly experience impairments in functional mobility and greater restrictions in daily life activities, a study suggests.