Israeli hospital performs world's first experimental gene therapy for rare genetic epilepsy

An eight-month-old infant has become the first patient globally to receive an experimental gene replacement therapy targeting a rare and severe form of genetic epilepsy. The groundbreaking treatment was administered at Schneider Children’s Medical Center of Israel in Petah Tikva, aiming to restore the function of the WWOX gene within the brain.

This pioneering therapy represents a significant milestone in the development of precision genetic treatments for rare neurological conditions. The infant's family opted to keep their identities private, and no photos were released. The condition, known as WWOX-related epileptic encephalopathy (WOREE syndrome), is an ultra-orphan disease, with only an estimated 60 to 90 confirmed cases documented worldwide.

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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.

The breakthrough treatment is the result of years of dedicated research led by Professor Rami Aqeilan of the Hebrew University of Jerusalem. Professor Aqeilan highlighted the achievement as a testament to the synergy between basic scientific discovery, clinical expertise, and international collaboration. He emphasized how fundamental research can translate into potential new therapeutic strategies for children suffering from severe genetic epilepsy.

WOREE syndrome arises when an individual inherits two mutated copies of the WWOX gene. While the WWOX gene is known for its role as a tumor suppressor, it also plays a crucial part in healthy brain development and maintaining the brain's stable internal environment. The condition is characterized by drug-resistant seizures, severe intellectual disability, and psychomotor delays, with respiratory complications often leading to premature death, typically between two and four years of age.

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This achievement demonstrates the power of combining scientific discovery, clinical excellence, and international collaboration. It highlights how fundamental research can advance from the laboratory toward potential new treatment options for patients with rare genetic diseases.