Liver biopsy confirms precise and efficient correction of SERPINA1 after in vivo Base Editing in a Patient with Alpha-1 Antitrypsin Deficiency.
BACKGROUND Alpha-1 antitrypsin deficiency (AATD) caused by the PI*ZZ genotype (Glu342Lys) is characterized by hepatic accumulation of misfolded AAT-Z protein and reduced circulating AAT levels, leading to progressive liver disease and pulmonary emphysema. Gene correction therapy represents a potentially curative approa...