Liver-directed gene therapy results in amelioration of progressive familial intrahepatic cholestasis type 2 in mice
Gene therapy delivered to the liver restored a critical bile transport protein in disease models, offering the first genetic fix for a severe inherited liver disorder.
AAV vector VTX-802 encoding ABCB11 under a constitutive liver-specific promoter restored hepatic BSEP expression in PFIC2 mice with sustained dose-dependent reduction in serum transaminase levels and partial correction of hepatomegaly and bile acid secretion; first reported gene therapy approach for PFIC2. This record was retained from the prior triage attempt for PubMed pipeline handoff.
What the study was
- Study design
- in_vivo_preclinical
- Category
- rare_diseases
- Maturity
- Exploratory
- Journal
- Hepatology Communications
Why it surfaced
First reported AAV gene therapy candidate for PFIC2 (ABCB11-deficiency), a rare cholestasis requiring transplantation with significant unmet need. Backed by Vivet Therapeutics (IND-stage company); constitutive promoter outperforms bile acid-inducible construct; data support clinical development. Preclinical but strong unmet need and translational momentum.
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