Gene Therapy Breakthrough Offers Hope for Severe Infant Epilepsy
An eight-month-old infant suffering from a devastating genetic form of epilepsy has become the first patient to receive an experimental gene replacement therapy delivered directly to the brain. The landmark procedure was conducted at the Schneider Children's Medical Center of Israel under a compassionate-use program.
The Procedure & Initial Results
The infant, diagnosed with WOREE syndrome (WWOX-related epileptic encephalopathy), began experiencing severe seizures at just six weeks of age. The treatment utilizes an adeno-associated viral vector (AAV9) to deliver a functional copy of the WWOX gene directly to the patient's neurons.
One month after treatment, the child was clinically stable and discharged from the hospital without recurrence of severe seizures.
The Science Behind the Treatment
The therapy targets a mutation in the WWOX gene, which is responsible for one of the most severe forms of genetic epilepsy. The breakthrough is the result of extensive preclinical research:
- Studies in WWOX-deficient mice demonstrated that a single administration of the therapy restored WWOX expression.
- This treatment successfully improved seizures, neurological deficits, growth abnormalities, and overall survival in animal models.
- The technology has been licensed to Mahzi Therapeutics, which manufactured the clinical-grade vector and managed the regulatory requirements for the human trial.
A Decade of Research Culminates
The research was led by Prof. Rami Aqeilan of the Hebrew University of Jerusalem, with collaboration from scientists and clinicians in both Israel and the United States.
"This moment represents the culmination of many years of basic and translational research. What began as an effort to understand the biological function of a gene has evolved into a potential therapeutic strategy for children affected by one of the most severe forms of genetic epilepsy."
— Prof. Rami Aqeilan
Looking Forward
While the immediate results are promising, long-term follow-up is required to fully evaluate the safety and efficacy of the treatment. This approach represents a significant step toward developing personalized therapies for children suffering from ultra-rare genetic epilepsies.