Gene therapy shows promise at treating severe form of epilepsy

The new Dravet syndrome treatment is the first to target the disease’s underlying cause.

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.

The new Dravet syndrome treatment could help improve and extend the lives of people with the rare but debilitating disease.

The challenge: People born with Dravet syndrome start experiencing seizures when they’re 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.

There is no cure for Dravet syndrome, and 10-20% of children born with it die before reaching adulthood. 

Certain diets, medications, and therapies can help reduce the frequency and severity of seizures, but patients still require constant, lifelong care.

Between 10% and 20% of children born with Dravet syndome die before reaching adulthood.

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. 

This leads to a shortage of that protein in specialized brain cells, called “interneurons,” that protect against seizures.

No existing Dravet syndrome treatment directly addresses the underlying cause of the disease — so the UVA team decided to make one that does.

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.

The treatment completely prevented seizures and premature death in infant mouse models of Dravet.

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.

When tested in mouse models of Dravet syndrome, the treatment completely prevented seizures and premature death in infant mice. 

The animals’ interneurons were “more responsive, more active, and better able to do their jobs,” according to a press release.

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. 

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.

That study was small, with just 21 participants so far, and these are interim results, so it’s still too early to say whether the therapy (called STK-001) will ultimately make it to patients.

Still, if the results hold up in larger trials, the new treatment could help people with Dravet syndrome live longer, healthier lives.

We’d 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 [email protected].

Related
The placenta may play a role in the genetic risk of schizophrenia
Researchers at Johns Hopkins have found that genes associated with schizophrenia risk may impact the placenta, not just the brain.
Gain-of-function research is more than just tweaking risky viruses
Gain-of-function experiments in the lab can help researchers get ahead of viruses naturally gaining the ability to infect people in the wild.
Chronic pain can be objectively measured using brain signals
Even though pain is universal and we know it happens in the brain, we’ve never before had a way to objectively measure its intensity.
Do we finally know what causes Alzheimer’s?
The first treatments proven to slow cognitive decline in Alzheimer’s are helping settle a decades-long debate about how the disease starts.
This “bridge” between chemo and cancer solves a big problem for treatment
To improve leukemia treatment, Australian researchers have created a bispecific antibody that connects chemo drugs to cancer cells.
Up Next
online pharmacy
Subscribe to Freethink for more great stories