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.
Minister for Medical Research David Harris said:
“With more than 500,000 Australian children living with a rare disease, the Innovative Therapies Pathway represents an extraordinary opportunity to help children and their families.
“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.
“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’s breakthrough treatment highlights the strength of NSW’s medical research system and the impact on people’s lives when discoveries are translated rapidly and responsibly into patient care. It can be truly life changing.
“This Innovative Therapies Pathway is a great example of the NSW Government’s leadership in supporting collaborative health models that enable safe and equitable access to emerging treatments.
“I applaud Dr Lorentzos, Dr Kothur, and their colleagues for the work that’s been done here to help Bohdi.”
Medical Lead for Advanced Therapeutics at Sydney Children’s Hospitals Network Dr Michelle Lorentzos said:
“We are entering a new era where highly personalised therapies for ultra-rare diseases are increasingly possible.
“This goes beyond a single medication or a single patient; it’s about a new way of delivering innovative treatments to children.
“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.”
Paediatric Neurologist at Sydney Children’s Hospitals Network Dr Kavitha Kothur said:
“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.”
Bohdi’s Mother Stephanie Higginson 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.
“Her work changed our lives. Bohdi’s now like a completely different baby.”
