Scientists at the University of Virginia (UVA) School of Medicine have developed a promising gene therapy to target the mutation behind a severe form of epilepsy.<\/p>\n
The new Dravet syndrome treatment could help improve and extend the lives of people with the rare but debilitating disease.<\/p>\n
The challenge: People born with Dravet syndrome start experiencing seizures when theyre still infants. Seizures continue throughout their lives and often lead to a host of health problems severe developmental delays, speech impairments, intellectual disability, and movement difficulties.<\/p>\n
There is no cure for Dravet syndrome, and 10-20% of children born with it die before reaching adulthood.<\/p>\n
Certain diets, medications, and therapies can help reduce the frequency and severity of seizures, but patients still require constant, lifelong care.<\/p>\n
Between 10% and 20% of children born with Dravet syndome die before reaching adulthood.<\/p>\n
The idea: In more than 80% of cases, people with Dravet syndrome have a mutation in a particular gene (called SCN1A) that results in reduced production of a critical protein in the brain.<\/p>\n
This leads to a shortage of that protein in specialized brain cells, called interneurons, that protect against seizures.<\/p>\n
No existing Dravet syndrome treatment directly addresses the underlying cause of the disease so the UVA team decided to make one that does.<\/p>\n
The Dravet syndrome treatment: Dravet is usually caused by a single random mutation, but people generally carry two copies of every gene. The researchers aimed to use the second intact gene to treat the disease.<\/p>\n
The treatment completely prevented seizures and premature death in infant mouse models of Dravet.<\/p>\n
Using an approach they call Targeted Augmentation of Nuclear Gene Output (TANGO), the scientists developed a Dravet syndrome treatment that prompts the intact gene to increase protein production.<\/p>\n
When tested in mouse models of Dravet syndrome, the treatment completely prevented seizures and premature death in infant mice.<\/p>\n
The animals interneurons were more responsive, more active, and better able to do their jobs, according to a press release.<\/p>\n
The big picture: Therapies that work in mice often fail in humans, but early results in human trials suggest this Dravet syndrome treatment has a shot.<\/p>\n
More than 70% of children with Dravet in an ongoing phase 1\/2A study experienced a reduction in seizure frequency following treatment, according to Stokes Therapeutics, the company developing the drug.<\/p>\n
That study was small, with just 21 participants so far, and these are interim results, so its still too early to say whether the therapy (called STK-001) will ultimately make it to patients.<\/p>\n
Still, if the results hold up in larger trials, the new treatment could help people with Dravet syndrome live longer, healthier lives.<\/p>\n
Wed love to hear from you! If you have a comment about this article or if you have a tip for a future Freethink story, please email us at tips@freethink.com<\/a>.<\/p>\n <\/p>\n More: Scientists at the University of Virginia (UVA) School of Medicine have developed a promising gene therapy to target the mutation behind a severe form of epilepsy. Continue reading
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