Pam Vig, PhD, Head of Research & Development at Mirum Pharmaceuticals, gives an overview of Alagille syndrome.
As Dr. Vig explains, Alagille syndrome is a genetic disorder that can affect the liver, heart, skeleton, eyes, and kidneys. Liver damage caused by cholestasis is a major feature of the disease. Bile ducts may be narrow, malformed, or fewer in number. As a result, bile builds up in the liver and causes scarring. Signs and symptoms may include jaundice, poor weight gain and growth, and severe pruritus that generally presents in infancy or early childhood. Symptoms range from mild to severe, sometimes requiring liver transplantation. For children with liver involvement, the pruritus can be very severe leading to extensive scratching and as Dr. Vig notes – parents will walk into their child’s bedroom in the morning and see the sheets stained with blood.
Last year, the FDA approved maralixibat (Livmarli), the first-ever treatment for cholestatic pruritus in patients with Alagille syndrome.
Recently, Mirum Pharmaceuticals presented analyses of maralixibat at the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN) 2022 Annual Meeting. Overall, these presentations provide further evidence of maralixibat’s long-term safety and efficacy; the effect of maralixibat on critical liver parameters and improvements in growth; and the impact on caregivers of children living with Alagille syndrome, including the economic effect on the family.
To learn more about Alagille syndrome and other rare metabolic diseases, visit checkrare.com/diseases/metabolic-disorders/
