Targeting the Disease Mechanism in PFIC, With Hisamitsu Hayashi, PhD
Researchers are exploring new drug therapies for Progressive Familial Intrahepatic Cholestasis (PFIC) that target the disease mechanism rather than just symptoms. A drug previously used for urea cycle disorders has shown promise in restoring bile acid export in clinical studies.
Why it matters
This represents a significant shift in pediatric medicine, moving from palliative symptom management to addressing the underlying genetic cause of a rare liver disease.
For US clinicians managing progressive familial intrahepatic cholestasis (PFIC), approved drug therapy targets the itch, not the disease. The US Food and Drug Administration (FDA) has approved the ileal bile acid transporter (IBAT) inhibitor odevixibat (Bylvay) to treat pruritus in patients aged ≥3 months with PFIC.¹ Yet most patients still develop fibrosis and end-stage liver disease before adulthood.²
PFIC is a heterogeneous group of autosomal recessive disorders of childhood in which defects in hepatocellular transport genes disrupt bile formation.² Estimated incidence ranges from 1 in 50,000 to 1 in 100,000 births, and PFIC accounts for 10% to 15% of childhood cholestasis cases and 10% to 15% of pediatric liver transplant indications.²
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