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The New England Journal of Medicine has published a study on the long-term efficacy of AAV8-mediated gene therapy (GNT0003) in patients with Crigler-Najjar syndrome, an extremely rare congenital liver disorder affecting approximately 500 people in Europe. It is caused by a deficiency of UGT1A1, an enzyme required for bilirubin metabolism. The accumulation of this substance can lead to irreversible neurological damage and, in the most severe cases, death.

To date, patients have relied on blue-light phototherapy to control their bilirubin levels. Liver transplantation is the only definitive curative treatment option, but it carries a risk of complications. GNT 0003 is a gene therapy aiming to restore UGT1A1 expression in the liver and correct bilirubin levels in patients.

Lorenzo D'Antiga, director of the pediatrics department at Papa Giovanni XXIII Hospital, and his co-authors documented the persistence of treatment benefits four years after administration in the three patients who received the therapeutic dose at the hospital in Bergamo, Italy. Two of them were able to discontinue phototherapy, while the third maintained a partial response, requiring lower exposure to phototherapy. In all three patients, bilirubin levels remained significantly below the threshold associated with the risk of neurotoxicity.

The investigators also observed a sustained normalization of levels of alanine aminotransferase (ALT), a liver enzyme that is a key marker of liver health and function, in the three patients treated at the highest dose, an effect that had never been achieved with phototherapy alone.

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