- A baby girl in Germany, with early onset severe childhood epilepsy caused by a variant gene, was experiencing up to 25 seizures an hour.
- When no other epilepsy medications worked, doctors treated her with an experimental drug that reduced her seizures.
- The research team, including Florey epilepsy experts, says the results are encouraging.
Florey researchers say further investigation in clinical trials is warranted
An infant girl born experiencing near constant seizures has benefited from a new medication developed in part by Florey epilepsy researcher Professor Steve Petrou.
The drug, Elsunersen also known as PRAX-222, is being developed by US-based Praxis Medicines, co-founded by Professor Petrou who is also Chief Scientific Officer, and is a former Director of The Florey.
The drug aims to reduce or prevent seizures in children with a rare and severe form of epilepsy: SCN2A early-onset Development and Epileptic Encephalopathy (SCN2A-DEE).
Elsunersen was provided to the baby girl in Germany as a special case after all other medications failed to help her.
The results, published in Nature Medicine, are co-authored by Professor Petrou and Florey epilepsy researcher Dr Geza Berecki.
“This little girl was born preterm and was having 20-25 seizures every hour from birth,” Professor Petrou said. “At 7 weeks of age, after all other medications failed to stop her seizures, she began receiving our experimental treatment straight into her spinal fluid. Her seizures were interrupted at first and dropped to 5-7 an hour after 20 months of treatment.”
Professor Petrou said children with SCN2A-DEE and other forms of DEE are often treatment-resistant, and like this child, can be severely disabled.
To hear that she experienced no side effects and had far fewer seizures than previously, is tremendously encouraging, and provides hope to the global community of families whose children have SCN2A-DEE.
Dr Berecki said seizures in SCN2A-DEE are the result of a genetic variant in the SCN2A gene causing sodium channels in the brain to remain open for longer than normal.
“This leads to increased and sometimes constant electrical activity and seizures. Elsunersen uses a synthetic molecule called an antisense oligonucleotide (ASO) to interfere with the genetic instructions encoded in SCN2A. The drug reduces seizures by blocking the genetic instruction that had been keeping the ion channels open,” Dr Berecki said.
Professor Petrou said while exciting, further investigation of the benefits of elsunersen in clinical trials is warranted.
