We're a community of parents, carers, and clinicians supporting each other and working alongside Australian and international research.
Practical guidance for families navigating diagnosis, hospital stays, schooling, and the day-to-day of complex care. Information you can hand to a clinician or a grandparent.
A clear, current picture of where CDKL5 research stands — what trials are open, what registries exist, and how Australian families can participate.
Working towards better treatments and a cure, by connecting Australian families to international research and clinical trials.
What is CDKL5?
CDKL5 deficiency disorder (CDD) is caused by changes in the CDKL5 gene, which produces a protein essential for normal brain development. Most children present in early infancy with hard-to-control seizures and significant developmental delays.
Every child with CDD is different. Some learn to walk, others use wheelchairs. Some find their voice in spoken language, others communicate through eye-gaze, gesture, and assistive technology. What most families share is that the path is long, the team is large, and information is scarce.
This site is one place to start.
Most children begin having seizures in the first months of life. Many seizure types are difficult to control with standard medications.
Significant delays in motor skills, communication, and learning. Each child develops at their own pace.
Most children require lifelong support across feeding, mobility, communication, and medical care.
We don't run trials ourselves. We help Australian families find them, understand them, and join them when appropriate.
View researchInternational registries
We signpost the IFCR Connect CDKL5 registry and other research opportunities open to Australian families.
Australian access
We advocate for Australian families’ inclusion in international clinical trials, and surface what’s already accessible here.
Clinical guidance
We work alongside paediatric clinicians to share what’s known, what’s emerging, and where the open questions sit.
International registries, trial signposting, family-facing research updates.
Learn more
CDKL5 Australia