New drug trial brings hope for children with a severe form of epilepsy

24 March 2022
Purple Day

At just 12 months old, Bronte had her first seizure. It was a febrile convulsion with a very high fever, which isn’t uncommon for babies. However, from that time on she continued having seizures and some would go for over an hour.

At five years old Bronte was diagnosed with a severe form of epilepsy called Dravet syndrome. Dravet Syndrome starts in early infancy and is characterised by frequent epileptic seizures that can happen any time of the day or night.

Sadly, about 10 per cent of children will die due to the severity of their epilepsy. However, with early diagnosis and intervention, children diagnosed with Dravet Syndrome can live to adulthood.

Most days during Bronte’s childhood she would have between two and 10 seizures, usually at night. On a really bad night she would have up to 20 seizures.

Bronte had a moderate to severe intellectual disability, had to wear a helmet to protect her head and was sleepy and disengaged most of the time due to all the medication she was on. She had also begun to drool and was beginning to need to wear something around her neck to help.

“Things were pretty bad. We were chronically sleep deprived and this was starting to take its toll, not just on Bronte, but on my husband and me as well. I started to feel scared that we would lose her,” Bronte’s mum Deb said.

Dr Deepak Gill from Kids Neuroscience Centre at Kids Research first met Bronte at age 16 to consider whether she would be suitable for a clinical trial due to start at The Children's Hospital at Westmead. 

The trial was to study a new treatment for Dravet Syndrome, a medicine called fenfluramine. Fenfluramine has been shown to be a very effective treatment for people with Dravet Syndrome, but the number of people who had been treated at the time was very small.

“Drug trials can be very daunting for families but is only by being able to perform drug trials that we can learn about new treatments in a safe, and scientific way,” Dr Gill said.

The study found fenfluramine was an effective and safe treatment for Dravet Syndrome, reducing the number of epileptic seizures by over 75 per cent. This was a remarkable result, as no drug had ever been found to be this effective in treating this severe form of epilepsy.

Before the trial Bronte had tried nearly everything, but nothing had worked. However, within the first week of the trial Bronte’s nocturnal seizures stopped. After a few months she went from having 10 seizures a day to just one or two a week and even began having seizure free weeks. The drooling stopped, she started talking more, asking questions and making eye contact.

“She was a new girl. For me it was like I was seeing my little girl again. It was so exciting and beyond anything we could have ever hoped for. It's been a real game changer in a way we never thought was possible,” Deb said.

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