An eight-month baby in Australia has become the first in the world to receive a precision medicine treatment for a rare and severe form of epilepsy.
Bhodi Higginson was diagnosed with KCNT1-related epilepsy, which can be fatal or lead to significant health challenges.
On 21 April, he received his first dose of a treatment which had shown promising results in animal studies but had never been given to a person with epilepsy.
Baby in Australia helped by precision treatment
Bohdi had started having seizures at three months old, which worsened quickly with up to 74 on his worst day. They could be minutes long at a time and they began affecting his development.
Reports say he had his last seizure three days after receiving the treatment. His specialist team noted that before the treatment, Bodhi had stopped smiling and couldn’t keep his eyes open, but following the therapy, he was “babbling”, “controlling his head” and “doing everything a baby should be doing”.
He is continuing to receive his treatment, and his medical team is monitoring him to determine long-term effects of the medication.
Innovative therapies pathway
The treatment was assessed by a multidisciplinary team at Sydney Children’s Hospitals Network’s new ‘innovative therapies pathway’, which has been established to help people access promising new treatments early.
Bodhi’s doctor Kavitha Kothur said it was both “exciting” and “scary”, not knowing if the treatment would “work or it would harm”.
Bohdi’s mum Stephanie said that, despite both she and Bohdi’s dad being “terrified”, they chose to try the treatment, believing that otherwise they would lose their son.
The pathway for fast-tracking promising new medications has been rolled out across New South Wales. The Australian minister for medical research, David Harris said: “Our health system is getting better at tuning itself to individual needs.
“Having these pathways in place that we can speed up that process is a win-win for everyone.”
The specialists working on Bodhi’s case say they hope that the pathway will allow other children with difficult to treat conditions to also benefit from innovative new treatments.
What is KCNT1?
The cause of Bohdi’s epilepsy was revealed through genetic testing. It was caused by a rare mutation to the KCNT1 gene.
The organisation KCNT1 Epilepsy Foundation’s global community map for KCNT1 shows the global spread of 493 individuals with KCNT1 mutation. The organisation says there are now more than 590 cases worldwide.
KCNT1 Epilepsy Foundation says this form of epilepsy looks different from person to person, and no large-scale study has been done to determine a lifespan with the condition.
The mutations can cause different epilepsy syndromes associated with different challenges, which could have an early or a later onset.
Some of the epilepsy syndromes occur when the mutation had happened for the first time in the child, and other are linked to mutations passed down from a parent.
The organisation says many common seizure medications don’t often work for these conditions, but some treatment options include the ketogenic diet, some medications such as phenobarbital, topiramate, carbamazepine and cannabidiol, and vagus nerve stimulation (VNS).
Precision treatments are currently in development for these conditions, and new anti-seizure medications are being studied, including fenfluramine, cenobamate and bexicaserin.
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