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Fund the search for a cure.
STXBP1 Australia is a parent-led charity driving research into STXBP1 disorders. Every gift goes towards finding treatments, and ultimately a cure, for our kids.
Who you're giving to
This is who your gift is for
Children with an STXBP1 disorder work harder for every milestone than most of us ever will. Your donation funds the research that could give them more.
The reality of seizures
For some children, seizures never let up
Most children with an STXBP1 disorder have epilepsy. For some, the seizures keep coming despite medication, day and night, week after week. This is one child's reality, shared by their family.
- Seizures in a week
- 400+
- seizures in a single week
- Longest seizures
- 45+ min
- seizures needing rescue medication, every week
"Two months ago we started a new medication trial, and for the first time we're seeing a reduction in the length of her seizures. We've gone from 400+ seizures a week, including multiple cases of rescue medication administered for 45-minute+ seizures every week…"
Better treatments only come from research. Help us find them faster.
Where your money goes
STXBP1 Australia funds a clear, three-step research pathway in partnership with leading scientists. See the research.
Establish biomarkers
Before researchers can test new treatments, they need ways to measure what's happening inside the body. These measurements, called biomarkers, include things like genes, proteins and other naturally occurring molecules.
Biomarkers help scientists understand how an STXBP1 mutation affects the body and how its effects change over time. They also allow researchers to see whether a potential treatment is having an effect, often well before any visible changes in a person's symptoms.
Without reliable biomarkers, it's difficult to know if a treatment is working. That's why identifying them is a crucial first step in developing new therapies.
Test gene therapies
Before a gene therapy can be tested in people, it must first be shown to be safe and effective in the lab.
Researchers use blood cells donated by people with an STXBP1 mutation to create stem cells. These stem cells are then turned into brain cells (neurons), allowing scientists to study how a potential gene therapy works in cells affected by the mutation.
If the results are promising, the therapy is then tested in animal models. This helps researchers understand how it works in a whole living body, not just in individual cells.
Only gene therapies that are shown to be both safe and effective at each stage can move on to human clinical trials.
Reach clinical trials
Once a therapy is shown to be safe and effective in the lab, it can move into clinical trials, a long, complex and highly regulated process designed to protect participants and meet strict scientific, ethical and safety standards.
Early trials involve a small number of volunteers and focus on safety and dosing. If successful, larger studies test how well the therapy works for people with an STXBP1 mutation. Every trial must be approved by a Human Research Ethics Committee (HREC) and meet the requirements of Australia's Therapeutic Goods Administration (TGA).
Reaching this stage takes years of planning, specialist researchers and significant investment. Only once a therapy is proven safe, effective and of high quality can the TGA approve it for wider use.
A registered Australian charity
STXBP1 Australia is registered with the Australian Charities and Not-for-profits Commission (ACNC) and endorsed by the ATO as a Deductible Gift Recipient (DGR). All donations are tax-deductible. ABN 75 670 753 456.
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