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); // State 3: needs new details, highlighted, not a download yet if (needs) { return (In May 2026 we made a formal submission to the Senate Standing Committee on Community Affairs, setting out the evidence, priorities, and reforms the DEE community needs, alongside the collective voices of 134 families. Read the post and download both documents.
Read the postThe US FDA has granted Breakthrough Therapy Designation to elsunersen (PRAX-222), an investigational antisense oligonucleotide for seizures in SCN2A-DEE caused by gain-of-function variants.
Read the postWe are building out our library of research updates, partnership announcements, and stories from our community. Subscribe to hear when new pieces are published.
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Download PDF ); } function EpilepsyInquiryPage({ navigate }) { return (In May 2026, SCN2A Australia made a formal submission to the Senate Standing Committee on Community Affairs for its Inquiry into Epilepsy in Australia. We submitted two documents that belong together: a detailed evidence and recommendations paper, and a companion report carrying the collective voices of 134 families living with developmental and epileptic encephalopathies (DEEs).
Rare and complex epilepsies, including DEEs and genetic conditions such as SCN2A-related disorders, are defined by drug-resistant seizures, multiple co-occurring conditions, premature mortality, and lifelong care needs. They are also the part of the epilepsy population where the therapeutic pipeline is most active, and where early, accurate diagnosis decides whether treatment helps or causes harm.
Three independent processes within twelve months reached the same conclusion: current Australian systems are not meeting the needs of this population. The DEE Roundtable 2026, the IBE Rare Epilepsy Leaders Global Convening, and the published Global Epilepsy Needs Study each identified the same structural gaps. Families absorb the coordination work across health, disability, and education systems that do not talk to one another. Diagnostic delay causes clinical harm. Adult care pathways do not yet exist for the first generation of genetically diagnosed DEE patients now reaching adulthood.
Our recommendations are organised into five focus areas drawn from the Committee's Terms of Reference. They are cumulative and interdependent. At their heart are five central needs:
The clinical and economic cases point the same way. About 300 children are newly diagnosed with a DEE in Australia each year, an incidence of around 1 per 1,000. These children have exceptionally high needs: in a recent Australian sample, 61 per cent were hospitalised within a 12-month period, with an average admission of 23.2 days. Published cohort data report mortality of 13 to 15 per cent in SCN2A-related DEE, comparable to Dravet syndrome.
For SCN2A, molecular diagnosis is not optional; it determines whether treatment is safe. Gain-of-function variants typically cause early-onset, drug-resistant seizures, while loss-of-function variants more often produce autism and intellectual disability. Sodium channel blockers, a standard antiseizure medication class, can worsen seizures in people with loss-of-function variants. Yet families in our survey reported diagnostic delays of seven to fourteen years.
Our companion report, Collective Voices from the DEE Community, brings together 134 family responses, each consenting to share their lived experience with the Inquiry. The same problems show up in every postcode.
Read as a whole, the responses describe a system that asks families to be specialists, coordinators, and advocates at the same time, while also providing 24-hour care and absorbing the financial loss that comes with reduced work. When we asked families for the single most important change, a clear set of asks emerged:
The US Food and Drug Administration has granted Breakthrough Therapy Designation to elsunersen (PRAX-222), an investigational treatment for seizures associated with SCN2A developmental and epileptic encephalopathy (SCN2A-DEE) caused by gain-of-function variants. Praxis Precision Medicines announced the designation on 22 June 2026.
Elsunersen is an antisense oligonucleotide (ASO) designed to reduce SCN2A gene expression, targeting the underlying cause of the condition rather than the symptoms alone.
The designation was based on results from the EMBRAVE Part A trial, a randomised, sham-controlled Phase 1/2 study in nine children aged 2 to 12 with early-seizure-onset SCN2A-DEE.
Improvements across sleep, motor function, muscle tone, attention or neuropsychomotor development were reported in all treated children and none of those on sham.
Praxis reported that elsunersen was well tolerated, with no drug-related serious adverse events, no discontinuations, and no neuroinflammation signals at doses up to 8 mg. Most adverse events were mild to moderate.
Elsunersen now holds Breakthrough Therapy, Orphan Drug and Rare Pediatric Disease designations from the FDA, and Orphan Drug and PRIME designations from the European Medicines Agency.
The pivotal EMBRAVE3 study is enrolling around 30 patients under a single-arm, baseline-controlled design. All participants receive elsunersen for 24 weeks, followed by a further 24-week extension. The primary analysis measures the change from baseline in countable motor seizures. The programme is being run in collaboration with Ionis Pharmaceuticals and RogCon.