Pediatric Orphan Indications

Marinus is leveraging the pediatric safety profile of ganaxolone to expand its development into pediatric orphan indications.

Ganaxolone has been administered in more than 200 children, as young as four months old and dosed for more than two years. Ganaxolone is generally safe and well tolerated, with the most commonly reported side-effects being agitation, sedation, and dizziness.

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 gene. There is indirect evidence linking progesterone and allopregnanolone to the onset and offset of seizures in girls with PCDH19 pediatric epilepsy. Currently, there are no FDA approved therapies for this condition.

PCDH19 Pediatric Epilepsy

Clinical Development of Ganaxolone in PCDH19 Pediatric Epilepsy

We recently enrolled 11 females with PCDH19 epilepsy in a Phase 2 exploratory study to evaluate the safety and efficacy of ganaxolone in reducing seizure frequency from baseline. In this severe patient population, ganaxolone reduced seizure frequency from baseline in the majority of patients and was generally safe and well tolerated. The study has been expanded and is currently enrolling patients with CDKL5 disorder (CDKL5) and Lennox-Gastaut Syndrome (LGS), two additional pediatric orphan genetic epilepsies with difficult-to-treat seizures. More information about the trial can be found on, using Identifier NCT02358538.

Fragile X Syndrome

Photo Credit: Peter Saxon (CC BY-SA)

Fragile X Syndrome (FXS) is a genetic condition, caused by a mutation in the fmr1 gene, and is characterized by the development of a range of developmental problems, including cognitive impairment, learning disabilities and behavioral challenges. Ganaxolone and other agents that have been shown to improve GABA function have also been shown to improve FXS symptoms in a mouse model. Ganaxolone may increase signaling at existing receptors to normalize GABA function, thereby reducing anxiety, hyperactivity and other disabilities associated with this inherited disorder.

FXS is estimated to affect 100,000 children and adults in the U.S. Currently, there are no known cures or approved therapies for FXS.

Clinical Development of Ganaxolone in FXS

Ganaxolone was evaluated for the treatment of anxiety and attention in children with FXS in a Phase 2 exploratory clinical trial.  Consistent with our expectations and ganaxolone’s mechanism of action, treatment with ganaxolone improved anxiety and hyperactivity across multiple measures in FXS patients with high baseline anxiety.  In addition ganaxolone was generally safe and well tolerated. The results from this study support the anxiolytic effect of ganaxolone and provide a strong rationale to advance the clinical development of ganaxolone in anxious FXS patients. Additional information about the trial is available on, using Identifier NCT01725152.


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