Next Steps in Tackling CDKL5 Deficiency Disorder Following First Approval: Elia Pestana-Knight, MD

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"We need to move toward more objective measurements to determine if that medication is also impacting the disease itself. Are we getting better with the development of medications? For that, we have to have tools that are disease specific and that are not taken from general use on epilepsy because then we are going to be dealing with the limitations of these significant symptoms that are different from other epilepsies."

In March 2022, the FDA made a landmark decision, approving ganaxolone (Ztalmy; Marinus Pharmaceuticals) as the first medication to treat seizures associated with CDKL5 deficiency disorder (CDD). The oral neuroactive steroid that acts as a positive allosteric modulator of the GABAA receptor, was approved based on data from the phase 3 Marigold trial (NCT03572933), which showed that patients on the drug experienced a median reduction of 30.7% in 28-day major motor seizure frequency compared with a 6.9% reduction for those on placebo.¹

As the patient population with CDD has historically struggled with using the standard antiseizure medications meant for epilepsies, the decision represented a major breakthrough. Now, the attention should be focused on improving quality of life and including more patient-focused measures in future clinical trials, says Elia Pestana-Knight, MD. Pestana-Knight, a pediatric epileptologist at Cleveland Clinic, was the lead investigator for the Marigold study and presented the latest data at the 2022 American Academy of Neurology (AAN) Annual Meeting, April 2-7, in Seattle, Washington.

While the disease has only been formally recognized for less than 20 years, several prominent neurology-based organizations have begun to recognize the importance of addressing it, Pestana-Knight said. In an interview with NeurologyLive^®, she broke down the types of research needed to advance the state of care for CDD, along with some of the major efforts currently underway.

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REFERENCE
1. Olson H, Moosa AN, Rybak E, et al. Extended Duration Safety and Efficacy of Adjunctive Ganaxolone Treatment in Patients with CDKL5 Deficiency Disorder: 8-Month Minimum Open-Label Extension Follow-up. Presented at: AAN Annual Meeting; April 2-7, 2022; Seattle, WA, and virtual. Abstract 003540.