Patient Resources for
PCDH19-related epilepsy is a serious and rare epileptic syndrome characterized by highly variable early-onset cluster seizures with comorbid cognitive and behavioral disturbances with or without intellectual disability.
PCDH19-related epilepsy is caused by a mutation in the PCDH19 gene. There is indirect evidence linking progesterone and allopregnanolone to the onset and offset of seizures in girls with PCDH19-related epilepsy.
About 1 in 10 girls that begin having seizures before the age of 5 has PCDH19-related epilepsy. The features of PCDH19-related epilepsy can overlap or look similar to the features in Dravet Syndrome. It is estimated that there are approximately 10,000-12,000 children with PCDH19-related epilepsy in the United States.
How does PCDH19 affect the body?
PCDH19-related epilepsy predominantly affects girls, and seizures usually start when a child is between three months to three years old. The most consistent feature of this condition is seizures that come in clusters, last for days or weeks at a time, and do not respond well to available medications. It is estimated that about 70% of PCDH19-related epilepsy patients have intellectual disability of varying degrees, ranging from mild to severe.
Where can I find more information on PCDH19-related epilepsy?
You can find additional educational and support resources on PCDH19-Related Epilepsy through the following foundations and patient advocacy groups:
Links to third party sites are provided for convenience purposes only. The information contained on these sites is not information provided, controlled or monitored by Marinus Pharmaceuticals in any way. Marinus Pharmaceuticals is not responsible in any way for the accuracy, completeness or fitness for any particular purpose of any content appearing on such sites.
Clinical Development of Ganaxolone in PCDH19-Related Epilepsy
In a phase 2 open-label study in 11 children with PCDH19-related epilepsy, oral ganaxolone reduced seizure frequency and increased seizure free days in the majority of patients.
Marinus has decided to transition the ongoing Phase 3 Violet Study to a proof-of-concept (POC) trial evaluating allopregnanolone sulfate as a biomarker in the patients currently enrolled with a confirmed PCDH19 mutation. Marinus intends to provide access to ganaxolone for PCDH19-RE patients who saw benefits in the Violet Study.
Currently, pre-screened patients in the Violet study will be allowed to enroll through July 1, 2020.
Please work with your physicians to be considered for this trial or with the PCDH19 Alliance for additional options.
Liquid Suspension & Oral Dosing
Children in the study received ganaxolone as a liquid suspension. Ganaxolone was generally safe and well-tolerated. The common drug-related side-effects were consistent with other studies conducted to date. These data suggest that ganaxolone may be beneficial in the treatment of children with PCDH19-related epilepsy.