Early Phase Development
In January, we completed dosing on the first-in-human study of ABS-1230. In April, an eight-month-old boy at The Children's Hospital at Westmead became the first person in the world to receive it.
KCNT1-related catastrophic epilepsy is an often-fatal genetic disorder that presents in infancy. Only 18 Australians have ever been diagnosed. Affected babies can experience up to 60 seizures a day, lose developmental milestones they had already reached, and do not respond to conventional anti-seizure medications.
Until this year, there was no effective treatment. For sponsors working in ultra-rare indications, that is the familiar shape of the problem: a well-characterised genetic target, a credible mechanism, and no clinical pathway to a patient who needs it now.
Scientia Clinical Research conducted the single and multiple ascending dose cohorts for ABS-1230 on behalf of Actio Biosciences, completing dosing in January 2026.
The study was operationally demanding in ways that don't show up in a protocol summary.
Days at a time on manufacture and preparation, ensuring the compound was delivered accurately and safely.
Resolved complex scheduling and bed allocation constraints to make the cohort structure workable.
Delivered every dose and every assessment across the ascending dose cohorts.
Processing, custody and chain of integrity for every sample generated by the study.
That last point is the one worth dwelling on. The value of a first-in-human study is entirely contained in whether its safety data can be relied upon afterwards by a regulator, an ethics committee, or a treating physician making a decision about a specific child.
A few months after dosing completed, a neurologist at The Children's Hospital at Westmead approached Actio about a patient whose seizures were not responding to available medications. Actio was able to supply ABS-1230 to the treating physician under Australia's Special Access Scheme.
The mechanism on the hospital side was the NSW Government's Innovative Therapies Pathway, created by Dr Michelle Lorentzos at Sydney Children's Hospitals Network, which consolidates safety review, efficacy evidence, ethics, governance and operational readiness into a single assessment rather than a sequence. The clinical lead was paediatric neurologist Dr Kavitha Kothur, who identified the compound and pursued access for her patient.
None of that is possible without a safety package. The SAD/MAD data was the evidence those reviews were conducted against.
First-in-human to first patient
Australia's regulatory environment is often discussed in terms of start-up timelines. This is the other half of the argument. A well-executed first-in-human study here doesn't only generate globally accepted data. It can open compassionate access routes for patients while the broader development programme is still running.
That only holds if the Phase 1 data is strong enough to carry weight in decisions it was never designed for. Ours was.
We are proud of the part our teams played in this, and clear-eyed about its limits. This outcome belongs to Dr Kothur, to Dr Lorentzos, to Actio, and above all to Bohdi's family. He is at home now, and his mother has said he is like a completely different baby. What we contributed was the evidence that let them act.
Planning a first-in-human programme? We'd like to hear about it.
Talk to our teamRead more: 7NEWS · ABC News · NSW Government
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