Together, we're driving breakthroughs, improving lives, and building a brighter future for everyone affected by CDKL5 Deficiency Disorder.
We're the trusted bridge between Australian families and the global research effort, coordinating family participation in registries, natural-history studies and clinical trials, and acting as the Australia-side conduit for international research foundations and industry sponsors.
Working together for change
Working alongside Australian families, paediatric clinicians, hospitals and international research bodies including the International Foundation for CDKL5 Research.
International research partner
Supporting global coordination through research, registries and collaboration.
Our community. Our why.
Every family’s journey is unique, but together we’re stronger. These moments of connection, resilience and hope remind us what drives our mission forward.
Stay connectedTogether, we make a difference.
Hope grows when we share each step.
Every story fuels progress.
Support · Research · Cure
Practical support for Australian CDKL5 families. Plain-language research signposting families and clinicians can rely on. A long-term commitment to the work toward better treatments and a cure, coordinated with international research and industry partners.
Practical guidance for families navigating diagnosis, hospital stays, schooling, and the day-to-day management 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 variants 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. Vision delays, specifically cortical visual impairment (CVI), are a hallmark of CDD and often appear before motor milestones such as sitting.
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.
Accelerating research. Improving outcomes.
We don't run trials ourselves. We help Australian families find them, understand them, and join them when appropriate.
View research1 in 40,000
Estimated global prevalence of CDKL5 deficiency disorder
~5×
Growth in registered cases on the IFCR Connect registry since 2020
2026
CDKL5 Australia incorporated as a community association
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