According to a story from Market Screener, the biopharmaceutical company Marinus Pharmaceuticals, Inc. recently announced its plans to initiate a Phase 3 study that is intended to test ganaxolone as a treatment for children with PCDH19 epilepsy. The successful result of this study would provide critical data that could help allow this drug to approved for patients with this rare genetic disease. Marinus is focused on the development of treatments for neuropsychiatric disorders and epilepsy.
About PCDH19 Epilepsy
PCDH19 epilepsy is a rare syndrome which causes seizures to appear in children. The name of this disease is a reference to the PCDH19 gene, which is mutated in patients with the syndrome and causes the symptoms to appear. The mutation is heritable, but it often can appear spontaneously. As PCDH19 is found on the X chromosome, males with the mutation do not often present with symptoms. However, the majority of females with the mutation are symptomatic. These symptoms include seizures, behavioral abnormalities, and sensory and cognitive delays. The presentation is comparable to Dravet syndrome. Somewhere between 15,000 and 30,000 people are affected by PCDH19 epilepsy in the US. A number of anticonvulsant medications are used to treat the disease, but their effectiveness is limited in the child’s early years. As patients get older, they tend to have less seizures and medication becomes more useful. To learn more about PCDH19 epilepsy, click here.
About the Study
The Phase 3 study is intended to include the participation of around 70 patients with PCDH19 epilepsy that are between age 1 and 17. This will be a double-blind style study which will consist of an 8 week phase to collect seizure data followed by a treatment period of 17 weeks. Marinus plans to begin recruiting patients for the study before mid 2019.
In an earlier trial ganaxolone was found to reduce the median seizure frequency in 11 child patients by 25 percent. Marinus has also earned Orphan Drug designation from the US Food and Drug Administration (FDA) for ganaxolone as a treatment for PCDH19 epilepsy. The drug is being developed in three different dose formulations to optimize its effect for different patient populations.