A GLOBAL FIRST

IN RNA MEDICINE

The world’s first ASO for

an epilepsy splicing mutation

“Scientifically rigorous and globally significant, this is the most compelling example of personalised RNA therapy I’ve seen.”

- Professor Sue Fletcher (OA)

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  • ASO stands for ‘antisense oligonucleotide’ — a short piece of synthetic RNA designed to bind to a specific part of a faulty genetic message. Think of it like a patch that covers the error, allowing the cell’s machinery to read the instructions correctly again.

    Sasha’s ASO is designed to bind to the incorrect splice site created by her mutation. Once in place, it blocks the faulty signal and restores normal RNA splicing. That means her body can begin producing the correct SLC6A1 protein — something it hasn’t been able to do on its own.

  • SLC6A1 is a gene that helps control brain function by managing the movement of GABA — the brain’s main calming neurotransmitter. GABA acts like a brake system in the brain. When SLC6A1 isn’t working properly, this is like slamming on the brakes and holding them down, resulting in absence seizures, autism-like features, developmental regression, and loss of basic functions like speech.

    Sasha has a mutation in this gene that disrupts how SLC6A1 RNA is spliced together. Like skipping lines in a recipe, this produces a broken protein.

  • Sasha’s mutation affects a ‘splice site’, a tiny but essential signal in her genetic code that tells the cell how to cut and stitch RNA messages. Instead of making a clean, usable message, the RNA is cut at the wrong point, breaking the message and stopping the protein from forming correctly.

    15%+ of all disease-causing mutations are splicing mutations — across all genes, and all diseases. This means many millions of people are affected by them. Until now, no one in the world has ever received an ASO treatment designed to fix one. Sasha’s ASO will be the first of its kind — not just for SLC6A1, but for splicing mutations in general.

  • Unlike other genetic therapies, ASOs don’t alter the DNA. They’re reversible, adjustable and precise. Sasha’s ASO has already been developed, and it’s shown strong early promise in lab testing. We’ve confirmed it restores correct splicing in cell models. Now, we need to complete safety testing in animals — the final step before it can be given to Sasha.

    This is urgent. Sasha is losing skills every day. The earlier she receives treatment, the more we can preserve.

  • Sasha’s ASO isn’t just a lifeline for one little girl — it’s a roadmap for countless others affected by splicing mutations, not just in SLC6A1 but in all genes. Sasha’s case will prove that they’re treatable.

    Sasha’s treatment will show that a tailored ASO can safely correct a splice site mutation in a living person. That means families around the world will finally have hope — and a model to follow.

    By helping Sasha, you’re helping to open a new frontier in precision medicine. Blaze the trail with her!

The Science

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The Scientific Panel and Advisors

Institutions

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Queensland University of Technology logo with the acronym QUT in white letters on a blue background, with the institution's name in blue text below.
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Example: Before and After ASO Treatment

in Dravet Syndrome

Sasha’s condition (SLC6A1) is a similar type of genetic epilepsy disorder. Her ASO is personalised and will be the first ever developed to correct a splice site mutation. While these videos don’t predict her outcome, they show what’s possible with ASO therapy.

Antisense oligonucleotide (ASO) therapy is a revolutionary approach that targets the cause of some rare genetic conditions at the RNA level.

These videos show children with Dravet syndrome, a similar severe genetic epilepsy, before and after receiving ASO therapy as part of clinical trials or compassionate access programmes. The changes are real — and they’re giving hope to families around the world.

Before and After - Dravet - Kicking a ball

Before and After - Dravet - Handwriting

Before and After - Dravet - Fine motor function

Before and After - Dravet - Finger nose testing