A novel gene-editing approach utilizing CRISPR technology targets the underlying genetic mechanisms of alternating hemiplegia of childhood (AHC). This treatment aims to correct mutations in the ATP1A3 gene, offering a potential one-time solution instead of merely managing symptoms. AHC manifests in early childhood, leading to temporary paralysis, muscle contractions, weakness, and seizures. Current therapies fail to address the root cause, making gene editing a preferable disease-modifying option. The study employed base editing and prime editing techniques on human stem cells and mouse models, enhancing treatment versatility for AHC patients.
Current treatments for AHC just manage the symptoms of the disease and do not modify the underlying cause. Gene editing corrects the root cause, so there's a higher likelihood that these therapies will be disease-modifying.
AHC typically presents within the first 18 months of life and can cause recurrent bouts of temporary paralysis on one (hemiplegia) or both (quadriplegia) sides of the body, painful and involuntary muscle contractions (dystonia), muscle weakness and seizures.
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