Full Breakdown
Israeli Infant Receives First Gene Therapy for Rare Genetic Epilepsy
6/10/2026, 11:03:47 AM
First Human Gene Therapy for WOREE Syndrome Administered in Israel
The eight-month-old infant, born in Israel and diagnosed with WOREE syndrome, became the world’s first patient to receive an experimental gene-replacement therapy. The single intracerebral injection was performed at Schneider Children’s Medical Center in Petah Tikvah under a compassionate-use protocol, delivering a functional copy of the WWOX gene directly into brain neurons. The procedure followed extensive regulatory clearance and aimed to restore the gene essential for normal neurological development and future outcomes.
Background: WOREE Syndrome, WWOX Gene, and Preclinical Evidence
WOREE syndrome (WWOX-related epileptic encephalopathy) is a rare neurodevelopmental disorder caused by biallelic loss-of-function mutations in the WWOX gene. Affected infants typically develop refractory seizures within weeks of birth, profound developmental delay, and a high risk of early mortality. Professor Rami Aqeilan’s team at the Lautenberg Center for Immunology and Cancer Research showed that mice lacking brain WWOX recapitulate these phenotypes, displaying epilepsy, myelination defects, and premature death. In those models, a single dose of the gene-therapy vector restored WWOX expression, reduced seizures, improved growth, and extended survival.
Key Researchers and Institutions
Professor Rami Aqeilan, a molecular geneticist at the Hebrew University of Jerusalem, led the gene-replacement program. Dr. Naama Orenstein, a pediatric neurologist at Schneider Children’s Medical Center, coordinated the compassionate-use case. The effort involved the Lautenberg Center for Immunology and Cancer Research, the university’s Faculty of Medicine, and biotechnology partners in Israel and the United States.
Immediate Clinical Outcome
One month after treatment, the infant remained clinically stable, was discharged, and experienced no recurrence of the severe seizures that began at six weeks of age. Researchers emphasized that ongoing monitoring is essential to evaluate long-term safety and durability of the therapeutic effect.
Official Statements & Responses
Professor Aqeilan said the team was proud to reach this milestone and noted that the therapy’s patent was filed after successful mouse studies. He credited Dr. Orenstein for enabling the compassionate-use administration. He announced an FDA submission is planned within two months, with expectations that a marketable medicine could appear in two to three years if trials succeed.
Verbatim Quotes
- “We are very proud.” — Prof. Rami Aqeilan, Hebrew University
- “The infant is the first human to receive this treatment.” — Prof. Rami Aqeilan, Hebrew University
- “This gives hope to many patients who not only have this syndrome, but also other neurodevelopmental problems.” — Prof. Rami Aqeilan, Hebrew University
- “Gene therapy can be the answer to many of these diseases.” — Prof. Rami Aqeilan, Hebrew University
Conflicting Reports & Gaps
The short-term stability of the infant is encouraging, yet the sources stress that long-term safety, immune response, and durability of gene expression remain unproven. No data exist on larger patient cohorts or potential adverse effects, underscoring the need for extended follow-up.
Implications and Future Steps
The case demonstrates a translational pipeline from rare-disease genetics to clinical intervention, potentially opening gene-therapy avenues for other intractable neurodevelopmental disorders. An FDA filing is expected within two months, followed by phased trials that could yield a marketable treatment in two to three years.
