PCDH19 Pediatric Epilepsy

Patient Resources for

PCDH19 Pediatric Epilepsy

PCDH19 pediatric 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 pediatric epilepsy is caused by a mutation in the PCDH19 epilepsy gene. There is indirect evidence linking progesterone and allopregnanolone to the onset and offset of seizures in girls with PCDH19 pediatric epilepsy.

About 1 in 10 girls that begin having seizures before the age of 5 has PCDH19 pediatric epilepsy. The features of PCDH19 pediatric epilepsy can overlap or look similar to the features in Dravet Syndrome. It is estimated that there are approximately 1,500 children with PCDH19 pediatric epilepsy in the United States.

How does PCDH19 pediatric epilepsy affect the body?

PCDH19 pediatric 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 pediatric epilepsy patients have intellectual disability of varying degrees, ranging from mild to severe.

Where can I find more information on PCDH19 pediatric epilepsy?

You can find additional educational and support resources on PCDH19 Pediatric 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.

violet

Violet’s Story

“Despite the challenges our daughter faces every day, she loves life, the park and the beach, works hard in school, loves playing with her little brother, and making new friends. As her parents, we make the absolute best of the times when she is healthy and happy, and we hope for and work toward a day when our daughter can live without seizures.”

Read More About Violet and Other Stories

Clinical Development of Ganaxolone in PCDH19 Pediatric Epilepsy

In a phase 2 open-label study in 11 children with PCDH19, oral ganaxolone reduced seizure frequency and increased seizure free days in the majority of patients. In addition, clinical global impression was generally consistent with seizure reduction.

Target Formulation

Liquid Suspension

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 epilepsy.

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Bibliography

Find publications referencing ganaxolone and its affect on seizures and neuropsychiatric disorders.

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