Abstract Details

Title Analysis of Real-world Characteristics of Patients with CDKL5 Deficiency Disorder Enrolled for Ganaxolone Treatment

Topic Epilepsy/Clinical Neurophysiology (EEG)

Presentation(s) P6 - Poster Session 6 (8:00 AM-9:00 AM)

Poster/Presentation
Number 1-010

Objective

Here we review data obtained from ganaxolone patient enrollment forms submitted to a specialty pharmacy for patients with cyclin-dependent kinase-like 5 deficiency disorder (CDD), to assess the clinical features of patients being prescribed ganaxolone.

Background CDD is a developmental and epileptic encephalopathy characterized by global developmental impairment and early-onset, refractory seizures. Ganaxolone is FDA-approved for the treatment of seizures associated with CDD in patients ≥2 years old.

Design/Methods A retrospective analysis was conducted using de-identified patient enrollment form data from a single specialty pharmacy in the USA. Patients included in the analysis had CDD (ICD-10 G40.42) and were prescribed ganaxolone between July 2022-February 2023. Data collected included epilepsy-related ICD-10 codes, age at seizure onset, previously- and concomitantly-utilized medications, additional seizure interventions, and current seizure burden.

Results Data from 114 patients were analyzed. At the time of prescribing, 54.4% of patients were experiencing daily seizures (>30 seizures/month) with another 28.9% experiencing weekly seizures (4-29 seizures/month). Seizure onset was known for 82.5% of patients and occurred within the first 3 months of life in 72.5% of these patients. The three most frequent seizure-related ICD-10 diagnoses beyond CDD were “Lennox-Gastaut Syndrome”, followed by “epilepsy, unspecified” and “other generalized epilepsy and epileptic syndromes”. The most common medications discontinued prior to ganaxolone prescription were levetiracetam, topiramate, phenobarbital, and valproate. The most common concomitant medications were clobazam, levetiracetam, cannabidiol, and valproate. Additional non-pharmacological interventions that were used previously or concomitantly included 31 patients on the ketogenic diet and 25 patients with a vagal nerve stimulator.

Conclusions

These data provide insights into real-world utilization of ganaxolone in the treatment of CDD-associated seizures, including use in patients with highly refractory epilepsy. Such data may inform clinical decision-making in the treatment of CDD.

Authors/Disclosures
John A. Flatt, MD PRESENTER	No disclosure on file
Alex Aimetti (Marinus Pharmaceuticals)	No disclosure on file
Ian Miller, MD	Dr. Miller has received personal compensation for serving as an employee of Marinus Pharmaceuticals. Dr. Miller has stock in Marinus Pharmaceuticals.

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