For some patients, epileptic seizures have been reduced by an astonishing 90%, significantly improving their ability to carry out everyday activities while restoring their confidence and quality of life
An antisense oligonucleotide (ASO) drug is still undergoing clinical trials and is awaiting approval from the U.S. Food and Drug Administration (FDA). Even so, it has already generated considerable optimism and hope among people living with epilepsy.
ASO works cumulatively, and its developers stress that it is not a universal cure for epilepsy. Nevertheless, patients who have received the treatment describe its effects as remarkable. The drug is administered directly into the spinal canal, and as its effects gradually diminish between doses, some symptoms may temporarily return.
What is particularly encouraging is that, in some patients, epileptic seizures have been reduced by as much as 90%. Many have become far more capable of managing everyday tasks and have regained confidence and a renewed sense of purpose.
One such patient is 17-year-old American Connor Dalby, who was previously unable to walk. After receiving the experimental treatment, he gained the ability to run. However, he continues to live with a severe form of autism spectrum disorder and developmental and epileptic encephalopathy, a rare type of epilepsy.
Connor is still unable to speak independently and, although he can now stand and move around on his own, he often requires guidance from his caregivers. He continues to need full-time care, but his condition has improved dramatically compared with before he began receiving the treatment.
Connor is among a small number of patients granted access to the experimental therapy through an FDA-authorised expanded access programme while the drug remains in clinical testing.
In simple terms, the experimental treatment reduces the activity of the mutated gene responsible for causing epilepsy while preserving the function of the healthy copy of the gene. Researchers believe that this ability to suppress the harmful genetic signal while maintaining the beneficial one could potentially be applied to patients with a wide range of disease-causing mutations.
Identifying these mutations shortly after birth and beginning treatment as early as possible may help children avoid developmental impairments caused by persistent epileptic seizures.
