Trials & approvals
An eight-month-old boy, Bohdi, becomes the first recipient of a new treatment for KCNT1-related catastrophic epilepsy through the Innovative Therapies Pathway at Sydney Children’s Hospitals Network. This pathway expedited access to life-changing medication, marking a significant advancement for a previously untreatable condition.
A new NSW Government medical pathway for kids with rare diseases at the Sydney Children’s Hospitals Network (SCHN) has seen an eight-month-old baby from the Central Coast become the first person in the world to benefit from a new treatment for a rare form of paediatric epilepsy. A new NSW Government medical pathway for kids with rare diseases at the Sydney Children’s Hospitals Network (SCHN) has seen an eight-month-old baby from the Central Coast become the first person in the world to benefit from a new treatment for a rare form of paediatric epilepsy. Bohdi, who was born with KCNT1-related catastrophic epilepsy, is the first recipient of SCHN’s new Innovative Therapies Pathway which gave him access to life-changing medication by helping fast-track the treatment’s approval and deliver the medication within six weeks. KCNT1-related catastrophic epilepsy is an often fatal genetic disorder affecting young babies that previously had no known effective treatment. The ultra-rare disorder, with only 18 Australian cases ever recorded, was causing Bohdi to experience up to 60 seizures a day and affecting his ability to smile. Using the Innovative Therapies Pathway, Dr Kavitha Kothur, paediatric neurologist at The Children’s Hospital at Westmead, 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. The Innovative Therapies Pathway, created by Dr Michelle Lorentzos, Medical Lead for Advanced Therapeutics at Sydney Children’s Hospitals Network, works to accelerate access to highly personalised therapies for children with rare, complex and life-limiting conditions, like Bohdi, where there is an urgent clinical need. Within days of starting the new medication, Bohdi’s 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. The Innovative Therapies Pathway is expected to accelerate access for other children with rare diseases, like Bohdi, by enabling experts to come together to rapidly evaluate novel therapies, assess safety, and efficacy evidence, as well as address ethics, governance and operational readiness in one stage, rather than sequentially. “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. “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.”
Original title: “New childhood rare disease pathway delivers life-changing results for eight-month-old Bohdi | NSW Government”
