ENROLLING NOW - 3
3. 1042-0900: A Multicenter, Open-Label Proof-of-Concept Trial of Ganaxolone in Children with PCDH19 Female Pediatric Epilepsy and Other Rare Genetic Epilepsies Followed by 52 Week Open-Label Extension
PI: Eric Segal, MD
Sponsor: Marinus Pharmaceutical
Key Inclusion Criteria:
* Have a parent or legal guardian available and willing to give written informed consent, after being properly informed of the nature and risks of the study and prior to engaging in any study-related procedures.
* Male or female outpatients between 2 and 18 years of age at the time of consent.
* A PCDH19 genetic mutation or a CDKL5 genetic mutation, which is confirmed by genetic testing in a certified genetic laboratory and considered to be pathogenic or likely related to the epilepsy syndrome
* Patient with Dravet syndrome must have a SCNIA mutation by genetic testing in a certified laboratory and considered to be pathogenic or likely related to the epilepsy syndrome. Lennox Gastaut Syndrome patients must have more than one type of generalized seizures including drop seizures (atonic, or myoclonic) for at least 6 months before screening visit
* Patient enrolled in the CSWS cohort must have a clinical diagnosis of CSWS as determined by a child neurologist with current or historical EEG during sleep consistent with the diagnosis
* For entry into the 52-week open-label extension, subject must have completed all scheduled clinical study visits and have shown a minimum 35% improvement in mean seizure frequency per 28 days vs baseline over the 28 day periods preceding study entry.
* Have had previous exposure to Ganaxolone.
* Known sensitivity or allergy to any component in the study drug, progesterone, or other related steroid compounds.
* Concurrent use of vigabatrin, tiagabine, ezogabine, or finasteride is not permitted, nor use of moderatye or sever inducers or inhibitors of CYP3A4/5/7