CDKL5 Australia

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A young Australian child with CDKL5 deficiency disorder

Clinical Trials & Treatment Access

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We signpost, we don’t endorse

CDKL5 Australia is the patient-and-family conduit between Australian families affected by CDKL5 Deficiency Disorder (CDD) and the global CDKL5 research effort. Our role on this page is informational, not interventional: we surface what trials and treatment pathways exist, what registry participation looks like, and how the Australian regulatory system fits into international research. We do not recommend, endorse, or evaluate any specific treatment, trial, or medication.

Eligibility, risk, and consent for any clinical trial are clinical decisions that sit with each family’s neurology and genetics team. Always discuss specific trials and treatment options with your child’s specialists.

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, and 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. CDKL5 Australia’s role is to help families locate trials and understand what participation involves; the decision to enrol is made between each family and their neurology team.

The IFCR Connect CDKL5 registry

The International Foundation for CDKL5 Research (IFCR) operates the Connect CDKL5 patient registry — the largest natural-history study in CDD. The registry feeds three things research depends on:

  • Natural-history evidence on how CDD 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 United States Food and Drug Administration (FDA), the European Medicines Agency (EMA), and Australia’s Therapeutic Goods Administration (TGA).

Family-reported registry participation is the single most useful contribution most Australian families can make to CDD research. Registration is free and completed online. CDKL5 Australia coordinates Australian participation in the registry 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 approval (FDA, EMA) does not automatically translate to TGA approval; sponsors submit separately, and the Australian timeline can run several years behind the United States or Europe.
  • 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) and Authorised Prescriber pathways — allow doctors to prescribe medications that are not yet TGA-approved, in cases where a patient’s condition warrants it. SAS is patient-by-patient; Authorised Prescriber lets a doctor prescribe to a defined class of patients for a defined indication. Both require a clinical case and regulatory paperwork; your child’s neurologist or paediatrician initiates the application.

For rare disorders like CDD, 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. International foundations including IFCR coordinate submissions to comparable regulators worldwide.

Staying current

Research in CDD is moving quickly: new trials are announced regularly, and existing studies open and close enrolment. Two ways to stay informed:

  • 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 — we share 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. We are happy to support information-gathering alongside that conversation.