Personalized Gene Therapy Helps Teen with Severe Epilepsy Walk for First Time

A pioneering personalized gene therapy has enabled a 15-year-old boy with a rare form of severe epilepsy to walk independently for the first time Source: El País. The treatment, tailored to the specific mutation in the SCN2A gene of each of two patients, reduced seizures dramatically and improved motor and language skills over two years.

The Condition and the Therapy

The therapy targets a rare epileptic encephalopathy caused by mutations in the SCN2A gene, a leading cause of monogenic autism. Traditional anticonvulsants often fail. Researchers from the University of California San Diego and the Rady Institute created allele-selective antisense oligonucleotides (ASOs) that silence the mutated gene copy while preserving the healthy one. The ASOs are injected into the cerebrospinal fluid every two to three months periodically Source: Infobae.

Results in Two Patients

In two separate clinical trials (n-of-1), a 9-year-old patient experienced a 26% reduction in seizure frequency, while Connor, now 15, saw a 90% reduction and achieved seizure-free periods lasting days Source: El Caribe. He also reduced his anticonvulsant medication and walked without assistance for the first time. Both children showed improvements in language, motor skills, and autistic behaviors.

Future Implications

The researchers believe this approach could be expanded from individual cases to larger groups sharing similar genetic backgrounds. About 16% of patients with SCN2A mutations could benefit from the same ASO developed for Connor Source: El País. The study was published in Nature Medicine.