CDKL5 Australia

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.

Clinical Trials & Treatment Access

Last updated:

We signpost, we don’t endorse

CDKL5 Australia provides information about clinical trials and treatment pathways so families can make informed decisions with their medical team. We do not recommend, endorse, or evaluate any specific treatment, trial, or medication.

Always discuss clinical trials and treatment options with your child’s neurologist or paediatrician.

What is a clinical trial?

A clinical trial is a research study that tests whether a new treatment is safe and effective. Trials go through several phases before a treatment can be approved for general use.

Joining a trial is always voluntary. You can withdraw at any time. Your child’s medical team can help you understand the risks and potential benefits of any trial you are considering.

The IFCR Connect CDKL5 Registry

The International Foundation for CDKL5 Research (IFCR) runs the Connect CDKL5 patient registry. This is one of the most important things an Australian family can do to support research:

  • It helps researchers understand CDD across a global population.
  • Families in the registry may be contacted about trials they could be eligible for.
  • Registration is free and can be done online.

We strongly encourage all Australian CDD families to register.

The Therapeutic Goods Administration (TGA) is the Australian body that approves medications for use. The Pharmaceutical Benefits Scheme (PBS) subsidises the cost of approved medications.

For rare diseases like CDD, the path from clinical trial to approved, subsidised treatment can be long. Here is what families should know:

  • A treatment approved overseas may not yet be approved in Australia by the TGA.
  • Even if TGA-approved, a medication may not be PBS-listed, which means it could be very expensive out of pocket.
  • The Special Access Scheme (SAS) and Authorised Prescriber pathways allow doctors to prescribe unapproved treatments in some cases. Ask your neurologist if these apply.
  • Patient advocacy plays a real role in TGA and PBS submissions. International foundations like IFCR track and support these regulatory pathways.

Staying informed

Research in CDD is moving quickly. New trials are announced regularly. The best ways to stay up to date: