Ganaxolone Shows Potential in Treating CDKL5 and Reveals Biomarker in PCDH19 Epilepsy

According to a story from, the biopharmaceutical company Marinus Pharmaceuticals, Inc., recently announced the presentation of Phase 2 clinical trial of the drug ganaxolone as a treatment for CDKL5 deficiency disorder and PCDH19 pediatric epilepsy. The trial revealed that the drug could be a useful therapy for CDKL5 deficiency, and it also could be useful for PCDH19 patients that display a certain biomarker.

About CDKL5 Deficiency Disorder

CDKL5 deficiency disorder is a genetic disorder which is characterized by intellectual disability, seizures, and developmental delays. Females are affected more frequently than males, but males tend to have more severe symptoms. These symptoms can include seizures (1-5 per day), constipation, distinctive facial features, reflux, teeth grinding, and problems with feeding and sleeping. Treatment options for CDKL5 deficiency disorder are limited and are primarily focused on minimizing symptoms There is a serious need for new and more effective therapies to treat this disorder. In order to learn more about CDKL5 deficiency disorder, click here.

About PCDH19 Epilepsy

PCDH19 epilepsy, which is also known as epilepsy-intellectual disability in females, as a rare form of pediatric epilepsy which almost always affects girls. It is characterized by brief, clustered seizures and some degree of mental impairment and behavioral problems. Seizure clusters appear as early as four months or as late as 60. Seizures are often of many types, can occur as many as ten times per day, and are often accompanied by fearful screaming. Treatment includes tranquilizers and antiseizure drugs, but PCDH19 seizures often resist treatment. To learn more about PCDH19 epilepsy, click here.

Trial Results

The trial found that ganaxolone was able to provide a long term reduction in the frequency of seizures in patients with CDKL5 deficiency. This effect also seemed to improve over time, although two patients saw their seizures increase slightly at 12 and 18 months, respectively. Marinus plans to conduct a Phase 3 trial to further investigate this drug.

In the cohort of PCDH19 epilepsy patients, the results revealed that differences in levels of endogenous neurosteroid allopregnanolone-sulfate (Allo-S) determined the response to treatment. In patients who did not display this biomarker, ganaxolone had a detrimental effect, but in biomarker-positive patients, the drug was able to reduce seizure frequency by 54 percent.

More research will have to be conducted to further reinforce these findings, but the results overall are encouraging. The revelation of the biomarker in PCDH19 will also help caregivers determine which patients should use it should the drug get approved.

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