An eight-month-old infant at Schneider Children’s Medical Center has received the world’s first experimental gene therapy for WOREE syndrome. The treatment delivers a healthy WWOX gene via a single injection to treat severe, medication-resistant epilepsy. Professor Rami Aqeilan of the Hebrew University expects to submit an FDA application within two months.
How does the WWOX gene therapy function?
The experimental treatment works by delivering a healthy copy of the WWOX gene directly into brain neurons. This is achieved through a single injection designed to restore neurological functions essential for normal development. According to Professor Rami Aqeilan of the Hebrew University of Jerusalem, the therapy aims to correct the underlying genetic cause rather than merely managing symptoms.
The infant in this case was diagnosed with WOREE syndrome, also known as WWOX-related epileptic encephalopathy. This rare disorder stems from mutations in the WWOX gene, which can lead to profound developmental impairment. The Hebrew University reported that the infant remained clinically stable one month after the procedure and was discharged from the hospital without a recurrence of severe seizures.
The WWOX gene was originally studied for its role in cancer biology. It was only later that Aqeilan’s research team identified its critical role in brain development and neurological function.
Why is WOREE syndrome a priority for genetic research?
WOREE syndrome presents extreme challenges for traditional medicine because the resulting epilepsy is typically resistant to standard pharmaceutical interventions. Patients often face severe developmental delays and a high risk of premature death. Because the condition is rooted in a specific genetic mutation, researchers are looking toward gene-replacement strategies as a primary solution.
Preclinical studies using mouse models provided the foundation for this human treatment. Researchers observed that mice lacking WWOX expression developed epilepsy, defective myelination, and significant neurological abnormalities. According to Aqeilan, these animal models closely mirrored the symptoms observed in human children with the syndrome, validating the gene-replacement approach.
What is the timeline for widespread medical availability?
While the initial treatment was successful, a standardized medicine is not yet available for general use. Professor Aqeilan told TPS-IL that an application to the U.S. Food and Drug Administration (FDA) is expected within two months. This application will initiate the formal regulatory process required for broader clinical use.
The path to market will include several phases of clinical trials. Aqeilan expects that if the trials proceed according to current plans, a finalized medicine could be available within two to three years. This timeline accounts for the rigorous safety and effectiveness evaluations required by global health authorities.
When researching rare neurodevelopmental disorders, look for “compassionate-use” frameworks. These protocols allow patients with life-threatening conditions to access experimental therapies outside of formal clinical trials when no other options exist.
How will compassionate-use frameworks impact future drug development?
This case highlights a growing trend in biotechnology where “compassionate-use” serves as a bridge between laboratory success and formal clinical trials. By allowing clinicians like Dr. Naama Orenstein to administer experimental treatments to critically ill patients, researchers gain real-world data that can accelerate the understanding of a therapy’s impact.
This approach is particularly relevant for ultra-rare diseases where the patient population is too small for traditional, large-scale trials. As gene therapy technology matures, the integration of biotechnology partners and clinical researchers—as seen in the decade-long work at the Lautenberg Center for Immunology and Cancer Research—will likely become a standard model for treating complex neurodevelopmental disorders.
Frequently Asked Questions
What is WOREE syndrome?
WOREE syndrome (WWOX-related epileptic encephalopathy) is a rare neurodevelopmental disorder caused by mutations in the WWOX gene, leading to severe epilepsy and developmental issues.
Is this treatment part of a clinical trial?
The infant received the treatment under a compassionate-use framework, which allows for the administration of experimental therapies outside of formal clinical trials for severe cases.
Who is conducting this research?
The research is led by Professor Rami Aqeilan at the Hebrew University of Jerusalem’s Lautenberg Center for Immunology and Cancer Research.
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