On March 7, 2024, the United Kingdom’s Medicines and Healthcare products Regulatory Agency shared via press release that the agency has approved Ztalmy (ganaxolone) for people living with CDKL5 deficiency disorder. 

Ztalmy, which is also approved in the United States and European Union, is indicated for the treatment of seizures associated with CDKL5 deficiency disorder. This therapy is orally administered and has been proven in clinical studies to reduce seizure frequency.  

The UK approval follows the release of promising data from a Phase 3 clinical study. Over 100 participants between ages 2-19 enrolled. Half of the participants received Ztalmy, while the other half received a placebo. After a 17-week period, researchers determined that Ztalmy was safe, well-tolerated, and effective in reducing seizures. 6.5% of those in the placebo group experienced reduced seizure frequency, compared to ~30% in the group receiving Ztalmy. Although therapy was well-tolerated, some individuals experienced adverse reactions such as fatigue and feverishness. 

What You Should Know About CDKL5 Deficiency Disorder

CDKL5 deficiency disorder is a rare genetic neurological disorder that fits under the category of developmental and epileptic encephalopathy (DEE). This disorder is caused by mutations in the CDKL5 gene. Normally, this gene provides instructions to make a protein called cyclin-dependent kinase-like 5 (CDKL5) that regulates other gene activity and plays a role in brain function. Typically, this disorder affects females; when it occurs in males, developmental delays are often more severe. 

Symptoms of CDKL5 deficiency disorder often manifest within the first three weeks of life. Children with CDKL5 typically experience developmental and motor delays, treatment-resistant seizures, speech and language impairments, and intellectual disability. Other possible symptoms include feeding and sleep difficulties, tremors, teeth grinding, repetitive hand movements, an abnormally small head size, and gastrointestinal issues like reflux. 

Currently, there are no cures for CDKL5. Research into potential therapies for CDKL5 is ongoing, including gene therapy approaches and insights into better understanding the underlying disease mechanisms. 

If your child has recently been diagnosed with CDKL5 deficiency disorder, you are not alone in your journey. Please reach out to the International Foundation for CDKL5 Research for support and resources.