Doctors deliver epilepsy gene therapy into infant’s brain

In what is being described as a medical world first, doctors at the Hebrew University of Jerusalem Faculty of Medicine delivered gene therapy into the brain of an eight-month-old baby suffering from a rare, life-threatening form of genetic epilepsy.

The therapy is based on more than a decade of research led by Prof. Rami Aqeilan of the Lautenberg Center for Immunology and Cancer Research. A research team developed a gene-replacement strategy using an adeno-associated viral vector (AAV9) to deliver a healthy copy of the WWOX gene to neurons. In preclinical studies, a single administration restored WWOX expression and improved seizures, neurological deficits, growth abnormalities and survival in animal models.

The technology was then licensed to Mahzi Therapeutics, which advanced the program by manufacturing the clinical-grade gene therapy vector and supporting translational and regulatory activities.

The patient began experiencing severe epileptic seizures at six weeks of age and 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.

One month after treatment through a compassionate use program, the child remained clinically stable and was discharged from the hospital. No recurrence of severe seizures have been reported during this initial observation period.