Israeli infant receives first gene therapy for rare genetic epilepsy
Baku, June 9, AZERTAC
An eight-month-old infant in Israel has become the first patient in the world to receive an experimental gene therapy that researchers say could potentially open new avenues for treating severe and previously untreatable forms of genetic epilepsy, according to TPS-IL. The procedure represents an early step in the broader field of precision medicine for rare inherited neurological disorders.
The therapy was administered at Schneider Children’s Hospital in Petah Tikva under a highly experimental compassionate-use framework, meaning it was provided outside a formal clinical trial due to the severity of the child’s condition and after extensive regulatory approvals, the researchers said.
The treatment uses an injection to deliver a healthy copy of the WWOX gene directly into neurons in the brain, with the aim of restoring a function essential for normal neurological development. The WWOX gene provides instructions for producing a protein involved in healthy brain development and neurological function. When mutations disrupt the gene, the result can include severe early-onset epilepsy and profound developmental impairment, including WOREE syndrome (WWOX-related epileptic encephalopathy), a rare and severe neurodevelopmental disorder.
The infant appeared healthy at birth but began experiencing severe epileptic seizures at six weeks of age. Genetic testing later identified a rare inherited mutation in the WWOX gene, confirming WOREE syndrome.
The disorder is characterized by early-onset epilepsy that is typically resistant to medication, profound developmental impairment, and a high risk of premature death.
Professor Rami Aqeilan of the Hebrew University of Jerusalem, who led the research, told The Press Service of Israel that an official U.S. Food and Drug Administration application for a medicine based on the approach will be submitted within two months.
“We are very proud. We listed this patent after we proved its concept on mice. The treatment for the infant was made possible as a compassionate-use treatment, thanks to my colleague Dr. Naama Orenstein,” Aqeilan said. “The infant is the first human to receive this treatment. The FDA process will include phases of clinical trials and we expect that within two or three years, if everything goes according to plan, there will be a medicine.”
The work is based on more than a decade of research led by Aqeilan at the Lautenberg Center for Immunology and Cancer Research at the Hebrew University’s Faculty of Medicine, bringing together scientists, clinicians, and biotechnology partners in Israel and the United States.
Originally studied for its role in cancer biology, Aqeilan’s research later identified WWOX as essential for normal brain development and neurological function. This shift in focus helped establish the basis for exploring gene replacement strategies in severe neurodevelopmental disorders.
Mouse models lacking WWOX expression in the brain showed severe neurological abnormalities, including developmental delay, epilepsy, defective myelination — a process in which the protective coating around nerve cells fails to form properly, disrupting signal transmission in the nervous system — and even premature death. These findings closely mirrored the symptoms observed in children with WOREE syndrome.
The findings helped establish the scientific basis for a gene replacement strategy aimed at restoring WWOX function in the brain.
In preclinical studies, a single administration of the therapy restored WWOX expression and improved seizures, neurological deficits, growth abnormalities, and survival in animal models, Aqeilan said.
One month after treatment, Hebrew University said the child remained clinically stable during early follow-up and had been discharged from the hospital. No recurrence of the severe seizures previously observed in the infant was reported during that period.
Researchers emphasized that long-term follow-up will be required to evaluate both safety and effectiveness.
“This gives hope to many patients who not only have this syndrome, but also other neurodevelopmental problems. Gene therapy can be the answer to many of these diseases. We must continue working to promote it,” Aqeilan told TPS-IL.
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