An 8-month-old infant with severe genetic epilepsy has become the first patient in the world to receive an experimental gene replacement therapy designed to restore the function of the WWOX gene directly in the brain. The treatment, administered at Schneider Children’s Medical Center of Israel, represents a significant milestone in the development of precision genetic therapies for rare neurological disorders. Genetic testing revealed a rare inherited defect in the WWOX gene, causing WOREE syndrome — a devastating disorder characterized by early-onset, drug-resistant epilepsy, profound developmental impairment, and a high risk of premature death. The research team developed a strategy using an adeno-associated viral vector (AAV9) to deliver a healthy copy of the gene to neurons. In preclinical studies, a single administration restored WWOX expression and improved seizures, neurological deficits, growth abnormalities, and survival in animal models. One month post-treatment, the infant remained clinically stable without seizure recurrence.
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