Deirdre Kelly, MD, FRCP, FRCPI, FRCPCH, Consultant Pediatric Hepatologist, Liver Unit, Birmingham Women’s and Children’s Hospital and University of Birmingham, the National Institute for Health and Care Excellence (NICE) officially announcing its recommendation of odevixibat (Bylvay) for the treatment of progressive familial intrahepatic cholestasis (PFIC).

PFIC is a rare genetic disorder that causes progressive, life-threatening liver disease due to an inability to properly remove bile acids from the liver. The most common manifestation of PFIC is pruritus, which often results in a severely diminished quality of life. In many cases, this disease leads to cirrhosis and liver failure within the first 10 years of life, and nearly all PFIC patients require treatment before the age of 40 years. Currently, odevixibat (Bylvay) is the only drug that has been approved by the U.S Food and Drug Administration (FDA) for the treatment of pruritus in patients with PFIC.

As Dr. Kelly explains, NICE recently issued guidance that recommends odevixibat for the treatment of all types of PFIC in people aged 6 months and older. The recommendation is supported by results from the PEDFIC 1 and PEDFIC 2 studies. PEDFIC 1 was the first and largest phase study conducted in PFIC, which evaluated the efficacy and tolerability of odevixibat in reducing pruritus and serum bile acids. In the PEDFIC 1 study, odevixibat met both the pruritus (P = .004) and serum bile acid (P = .003) primary endpoints and was well tolerated. PEDFIC 2 is a long-term, open-label phase 3 extension study of PEDFIC 1 which affirmed that odevixibat delivered sustained reductions in serum bile acid as well as improvements in pruritus assessments, growth, sleep, and markers of liver function in patients treated up to 48 weeks in an interim analysis. Across both studies, odevixibat was well tolerated. The most common adverse reactions were diarrhea, liver test abnormalities, vomiting, abdominal pain, and fat-soluble vitamin deficiency. There were no serious treatment-related adverse events reported in any clinical study with odevixibat.

To learn more about PFIC and other rare metabolic diseases, visit checkrare.com/diseases/metabolic-disorders/