Liver biopsy shows accurate and effective correction of SERPINA1 gene by base editing in a patient with Alpha-1 Antitrypsin Deficiency

Direct assessment of hepatic gene correction in a patient with Alpha-1 antitrypsin deficiency was achieved through liver biopsy.

• Alpha-1 antitrypsin deficiency is linked to the PI*ZZ genotype, which leads to liver disease and pulmonary emphysema.
• Hepatic accumulation of misfolded AAT-Z protein is observed in individuals with this genetic condition.
• Reduced circulating levels of AAT are associated with the progression of liver disease in these patients.
• Gene correction therapy may offer a curative approach by addressing the genetic defect directly.
• This case represents the first clinical instance of assessing gene correction in the liver following in vivo base editing.

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