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Girls suffering from a rare form of epilepsy due to a mutation in the X-chromosome will soon have access to their first chance at treatment, thanks to University of Adelaide researchers and Marinus Pharmaceuticals who are about to commence clinical trials.

Professor Jozef Gecz, from the University of Adelaide鈥檚 Robinson Research Institute, was a key player in identifying the responsible gene and mutations in this female-only epileptic syndrome, in 2008.

鈥淲e discovered that this condition is caused by an inherited mutation of the protocadherin 19 (PCDH19) gene, located on the X-chromosome,鈥� says Professor Gecz, Head of Neurogenetics at the University of Adelaide. 鈥淎nd interestingly, both males and females can be born with this mutation but only females suffer from the symptoms of the condition.

鈥淭he girls are affected because they have two X-chromosomes, one healthy and one with the PCDH19 mutation, which would usually protect them from a X-chromosome borne disease, but in this case it drives the disorder,鈥� he says.

A United States pharmaceutical company Marinus Pharmaceuticals (NASDAQ: MRNS) is now recruiting affected girls as part of the world鈥檚 first clinical trial to test the therapy through a synthetic form of the neurosteroid allopregnanolone, called ganaxolone.

鈥淭his form of epilepsy affects 15,000-30,000 girls in the US and approximately 1000 in Australia,鈥� says Professor Gecz.

鈥淕irls born with this gene mutation appear perfectly normal in the first few months of their lives but when they reach about eight months of age, they start suffering from debilitating and frequent seizures. The girls also commonly suffer from intellectual disability and autism 鈥� it鈥檚 a truly terrible disease which impacts the whole family.

鈥淭hrough our current research we found that sufferers are deficient in a hormone called allopregnanolone.

鈥淲e know that hormones play a critical role in this condition because the seizures often stop once the girls reach puberty 鈥� however the autism and intellectual disability remain. We expect that the longer we can delay the onset of seizures, the less the sufferer might be affected by the autism and intellectual disability