A new study conducted by researchers at Baylor College of Medicine, UMass Chan Medical School, and Cincinnati Children’s Hospital Medical Center has introduced a potential treatment for Alagille syndrome. This genetic disorder affects multiple organs, particularly the liver, often leading to liver failure. Currently, the only definitive treatment is a liver transplant.
The study published in Gastroenterology demonstrated that a single injection of gene therapy in mouse models significantly improved liver health and bile duct development even after liver damage had begun. Dr. Hamed Jafar-Nejad from Baylor explained, “Alagille syndrome is a genetic disease that affects about 1 in 30,000 individuals. The hallmark of the condition is a significant decrease in the number of ducts that transport the bile out of the liver.”
The research focused on silencing the Sox4 gene using adeno-associated viral gene therapy to deliver RNA molecules specifically targeting mouse liver cells. Duncan Fox from Jafar-Nejad's lab noted, “We were excited to see that one dose of the treatment led to the formation of more functional bile ducts, reduced liver scarring and inflammation, and improved overall liver structure and function into adulthood.”
Fox also highlighted that this therapy could reverse existing damage without causing harm in healthy mice. More research is needed before clinical trials can begin. Jafar-Nejad expressed optimism: “We are excited that our research points out the possibility that a single gene therapy injection could restore the biliary system and liver function in mouse models of the disease.”
The study was supported by various grants from institutions including Baylor College of Medicine and National Institutes of Health.
