STXBP1 Australia

STXBP1 Australia was established in 2020 by parents of children diagnosed with STXBP1 disorder—a rare and severe neurological condition—driven by the urgent need to improve outcomes and accelerate research.

We are a national, parent-led charity committed to supporting families, advancing scientific discovery, and raising awareness of STXBP1 disorder—one of the most common genetic causes of epilepsy and developmental delay in infancy. Children with this condition often face profound and lifelong challenges: many are non-verbal, experience daily seizures, cannot walk or be toilet trained, and require full-time care. Most are entirely dependent on others for daily living.

STXBP1 Australia plays a vital role in connecting families to trusted resources, clinical trials, and specialist care. We also work closely with researchers, clinicians, and pharmaceutical partners to drive forward translational research and the development of targeted therapies.

As a grassroots charity, we rely on donations and philanthropic partnerships to fund our mission. These funds support family education, national advocacy, clinician engagement, and research collaborations focused on improving quality of life and finding effective treatments.

With your support, we can bring hope to families facing this devastating diagnosis and help accelerate progress toward a future where all individuals with STXBP1 disorder have access to life-changing therapies and care.

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