Research
CDKL5 Australia coordinates Australian family participation in CDKL5 research — connecting families with registries, natural-history studies, and clinical trials, and acting as the Australia-side conduit for international research foundations and industry sponsors. We don’t run trials. We help families engage with the ones that exist.
Why family participation matters
Every CDKL5 trial, every approved treatment, every regulatory submission begins with the same precondition: a documented population of children whose families can be reached. Patient registries are the foundation of all of it.
The Connect CDKL5 registry — the global natural-history study run by the International Foundation for CDKL5 Research (IFCR) — informs trial design, lets researchers identify cohorts, and supports submissions to bodies like the US Food and Drug Administration and the Australian Therapeutic Goods Administration (TGA). The International CDKL5 Disorder Database, hosted by The Kids Research Institute Australia in Perth, contributes Australian and international longitudinal data into the same evidence base.
The practical consequence: when an industry sponsor evaluates whether to trial a treatment in Australia, the answer often turns on whether enough Australian children are documented and contactable. Family participation in registries is the rate-limiter on every other piece of CDKL5 research moving forward.
This is one of the most useful things any Australian family can do.
How Australian families participate
Three concrete steps, in roughly the order most families take them.
- Register with Connect CDKL5 — the IFCR-run global registry. Free, online, and the single most useful thing for international research coordination. Register at cdkl5.com
- Register with the International CDKL5 Disorder Database — Australian-led, hosted by The Kids Research Institute Australia. Complementary to the IFCR registry; many families participate in both. Register at the Kids Institute
- Subscribe to our newsletter — we relay Australian-relevant trial and study announcements as they land, so you don’t have to scan international forums to keep up. Subscribe
Research organisations we work alongside
International Foundation for CDKL5 Research (IFCR)
Global research-coordination foundation for CDKL5 deficiency disorder. Operates the Connect CDKL5 registry — the largest natural-history study in the disorder — and convenes industry and academic researchers internationally.
The Kids Research Institute Australia
Perth-based child-health research institute (formerly Telethon Kids Institute). Hosts the International CDKL5 Disorder Database and houses the longest-standing Australian research program on CDKL5 and Rett-spectrum disorders.
Molecular Neurobiology Lab — Kids Neuroscience Centre
Research group at Kids Research, Children's Hospital at Westmead. Studies the pathophysiology of neurodevelopmental disorders and develops gene-therapy approaches; led by Associate Professor Wendy Gold.
Murdoch Children's Research Institute (MCRI)
Melbourne-based paediatric research institute. Active programs in epilepsy genomics and neurodevelopmental therapeutics include work directly relevant to CDKL5 deficiency disorder.
Children's Medical Research Institute (CMRI)
Sydney-based gene-therapy and genetic-disease research institute, public face of the Jeans for Genes campaign. Programs include neurogenetic-disorder gene therapy and translational genomics.
CDKL5 disorder data portal
Open-access search portal for published clinical and genotype data on CDKL5 deficiency disorder. Maintained by Child Health Research at the University of Western Australia.
For the Australian researchers and clinicians in our network — including Associate Professor Wendy Gold, Professor Helen Leonard, and Professor Jenny Downs — see Industry & Research Partners.
For research and industry partners
Industry, academic, and clinical partners working on CDKL5 deficiency disorder: CDKL5 Australia engages directly on family-facing recruitment, registry liaison, and Australian regulatory pathway navigation — including the Therapeutic Goods Administration (TGA), the Pharmaceutical Benefits Scheme (PBS), and the Special Access Scheme (SAS). We don’t recommend specific treatments and we don’t run trials. We are the most reliable Australia-side route for engaging the Australian CDKL5 deficiency disorder family population.
Partnership enquiries: partnerships@cdkl5australia.com.au.
For families considering participation
If you’ve read this far and the words “registry” and “natural-history study” feel intimidating — they’re easier than they sound, and you don’t have to do them today. The forms are short. Each registry holds your information confidentially under its own privacy framework. You can withdraw at any time.
If you’d like to talk to another Australian parent who’s been through it before signing up, email us and we’ll connect you.