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Researchers from the University of Michigan have developed a groundbreaking gene therapy for Dravet syndrome, a severe and rare form of epilepsy in children.
Dravet syndrome (DS) is a type of developmental and epileptic encephalopathy (DEE) that manifests in infancy. This devastating condition leads to recurrent seizures, intellectual disability, and, in some cases, sudden death. DEE disrupts normal developmental progress, often causing delays and regression.
As most cases of DS stem from genetic mutations, the researchers focused on the SCN1B gene, which is critical for regulating sodium channels in the brain and heart. A defect in this gene leads to an even more severe form of DEE. In an animal study, researchers observed that mice lacking the SCN1B gene experienced frequent seizures and 100% mortality within three weeks of birth.
To counteract these effects, the team developed a gene therapy designed to replace SCN1B and enhance the expression of beta-1 protein, which is essential for maintaining proper sodium channel function in the brain. The results of their study were promising: the therapy significantly improved survival rates, reduced seizure severity, and restored normal brain neuron activity in newborn mice.
“Different forms of SCN1B gene expression may result in different outcomes for the therapy. However, the proof-of-concept is the first step toward a gene replacement therapy for SCN1B-linked developmental and epileptic encephalopathy,” stated the research team in their paper, published in the Journal of Clinical Investigation.
The significance of this development is underscored by a recent study published in Neurology, which found that epilepsy and developmental impairment occur in 1 in 340 children before the age of 16. Furthermore, 1 in 590 children are affected by DEE, and 1 in 800 have both intellectual disability and epilepsy.
While the new gene therapy represents a major step forward in the treatment of DS and other forms of DEE, further research and clinical trials will be necessary to determine its safety and efficacy in human patients.
Disclaimer: The findings discussed in this article are based on preclinical animal studies and have not yet been tested in humans. Patients and caregivers should consult healthcare professionals before considering any new treatments. Further research is required to establish the safety and effectiveness of this gene therapy in clinical settings.
