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We provide information only and do not recommend or promote any specific treatment, trial, or medication.
This page has not yet been reviewed by our Scientific and Medical Advisory Committee. Content is written by parent volunteers and may not reflect current medical guidelines.
Research
Clinical Trials & Treatment Access
CDKL5 Australia signposts information but does not endorse specific treatments or trials.
We help families understand clinical trials, registries and treatment access pathways so you can make informed decisions with your care team.
Clinical decisions stay with your care team
Always discuss options with your child’s neurology and genetics team.
Families can participate in research
Participation is voluntary and helps progress research forward.
What a clinical trial is
A clinical trial is a research study that tests whether an investigational treatment is safe and effective. Trials proceed in phases:
- Phase 1: establishes safety in a small group
- Phase 2: evaluates efficacy and dosing
- Phase 3: confirms efficacy at scale against existing standards of care
- Phase 4: monitors approved treatments in the broader population
Trial participation is voluntary and reversible, families can withdraw at any point. Sponsors are required to disclose the known and theoretical risks before consent is given.
The IFCR Connect CDKL5 registry
The International Foundation for CDKL5 Research (IFCR) operates the Connect CDKL5 patient registry, the largest natural-history study in CDKL5. The registry feeds three things research depends on:
- Natural-history evidence on how CDKL5 presents and progresses across a global cohort.
- Cohort identification for trial recruitment, sponsors use the registry to find eligible participants when a study opens.
- Regulatory submissions to bodies including the US FDA, the European EMA, and Australia’s TGA.
Participation is free and completed online. CDKL5 Australia coordinates Australian participation as part of our research liaison function.
Australia’s regulatory pathway: TGA, PBS, SAS
Three Australian bodies set the path from clinical trial to accessible treatment.
Therapeutic Goods Administration (TGA)
Approves medications for use in Australia. International approvals (US FDA, EU EMA) do not automatically translate to TGA approval, sponsors submit separately, and the Australian timeline can run several years behind.
Pharmaceutical Benefits Scheme (PBS)
Subsidises the cost of TGA-approved medications. A treatment can be TGA-approved but not PBS-listed, leaving families paying the full unsubsidised cost out of pocket.
Special Access Scheme (SAS) & Authorised Prescriber pathways
Allow doctors to prescribe medications that are not yet TGA-approved in cases where a patient’s condition warrants it. Both require a clinical case and regulatory paperwork; your child’s neurologist initiates the application.
For rare disorders like CDKL5, patient and family advocacy plays a real role in TGA and PBS submissions, natural-history evidence and lived-experience input strengthen the case for approval and listing.
Staying current
- Register with the IFCR Connect CDKL5 registry. Registered families are contacted directly when they may be eligible for a new trial.
- Subscribe to the CDKL5 Australia newsletter for new trial announcements and regulatory updates relevant to Australian families.
- If you have questions about a specific trial or treatment pathway, your child’s neurology and genetics team is the right starting point.
Families can help accelerate research
Every registry entry, every data point, every family who raises their hand moves CDKL5 research forward.
- Join the Connect CDKL5 registry.
- Share trial opportunities with your care team.
- Stay connected to announcements and updates.
Thank you for being part of this journey.
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