Eight-month-old becomes first in world to receive precision medicine for KCNT1-related catastrophic epilepsy
核心洞察
An eight-month-old NSW baby, Bohdi Higginson, became the first person worldwide to receive a precision medicine targeting the genetic cause of KCNT1-related catastrophic epilepsy (搜索).
The treatment was delivered within six weeks through the Sydney Children's Hospitals Network (搜索)'s new Innovative Therapies Pathway, which fast-tracks access to personalised therapies for rare childhood diseases.
Bohdi's seizures stopped within days of starting the medication, and he has since regained the ability to smile and returned home after previously requiring around-the-clock care.
An eight-month-old baby from the NSW Central Coast has become the first person in the world to receive a precision medicine treatment for KCNT1-related catastrophic epilepsy (搜索), a rare and often fatal genetic disorder for which there was previously no known effective treatment. Bohdi Higginson, who began having seizures at just three months old, received the treatment through the Sydney Children's Hospitals Network (搜索)'s (SCHN) new Innovative Therapies Pathway, which fast-tracked the medication's approval and delivered it within six weeks.
KCNT1-related catastrophic epilepsy (搜索) is an ultra-rare disorder, with only 18 cases ever recorded in Australia. The condition was causing Bohdi to experience up to 60 seizures a day, with 74 seizures recorded on his worst day, and was affecting his ability to smile. Paediatric neurologist Dr Kavitha Kothur at the Children's Hospital at Westmead described the seizures as lasting several minutes and being both unpredictable and frequent. "He would be just unresponsive, stiffening, jerking, drooling," Dr Kothur said. Conventional medications were not working, and Bohdi was losing developmental milestones. Dr Kothur noted the condition carried a poor prognosis, with most children dying in infancy or suffering from severe disability.
Using the Innovative Therapies Pathway, Dr Kothur collaborated with research experts to identify a new medication that could help Bohdi. The medication, previously only trialled in healthy adults, is a precision medicine that targets the genetic cause of Bohdi's condition and works to stop overactive brain currents from triggering seizures. Dr Kothur said the treatment had shown promising results in animal studies, but had never been given to a child or a patient with epilepsy.
The Innovative Therapies Pathway was created by Dr Michelle Lorentzos, Medical Lead for Advanced Therapeutics at Sydney Children's Hospitals Network (搜索). The pathway works to accelerate access to highly personalised therapies for children with rare, complex and life-limiting conditions where there is an urgent clinical need. It enables experts to come together to rapidly evaluate novel therapies, assess safety and efficacy evidence, and address ethics, governance and operational readiness in one stage, rather than sequentially.
Bohdi received his first dose of the treatment on April 21, and had his final seizure just three days later. Within days of starting the new medication, his seizures stopped, and for the first time in months he no longer required around-the-clock care. Bohdi has since begun smiling again and has been able to return home. Dr Kothur said it was the best news of her whole career. "While it is still early in the treatment journey, the clinical outcome for Bohdi has been excellent so far, with a complete cessation of seizures, and improvements in his development," she said. "To see such an early response in a child with such a severe disease is extraordinary. This breakthrough marks the beginning of a new era in genomic medicine for families facing rare genetic conditions, including severe epilepsy."
Dr Lorentzos described the transformation: "To walk in and see this gorgeous, babbling, beautiful baby who's controlling his head and kissing his mum and really just doing everything a baby should be doing, is really quite magnificent." She emphasised the broader significance of the approach. "This goes beyond a single medication or a single patient; it's about a new way of delivering innovative treatments to children," Dr Lorentzos said. "Collaboration has been critical in identifying the right therapy and enabling rapid access to treatment for Bohdi, and the outcome reflects the expertise of Bohdi's multidisciplinary care team, as well as the contributions of the Epilepsy Research Centre."
Minister for Medical Research David Harris highlighted the scale of the opportunity, noting that more than 500,000 Australian children are living with a rare disease. "The NSW Government is leading the way in paediatric care, with the Innovative Therapies Pathway having the potential to become a global model for paediatric rare disease care," Mr Harris said. "We are reaching an incredible point with precision medicine, where treatments can be tailored to the individual genetic causes of disease, offering hope to families who have previously had very limited options when it comes to treatment."
Bohdi has continued receiving the treatment and will need ongoing monitoring to determine its longer-term effects. Dr Lorentzos said the innovative therapies pathway could ultimately benefit other children with conditions that are currently difficult to treat. "If we have a pathway like this where we can streamline our process of assessing and delivering treatments for children, then that could actually change the lives of … hundreds of thousands of children within New South Wales," she said. Bohdi's mother, Stephanie Higginson, said the family felt they had little choice but to proceed. "The alternative was I was going to lose my son. So, we thought, why not? Let's give it a go," she said. "I will never be able to thank Dr Kothur enough for what she has done for my family. She never gave up looking for answers, and she gave us hope when we needed it most."