Pamela Vig, PhD, Chief Scientific Officer, Mirum Pharmaceuticals, gives a detailed overview of Alagille syndrome and the recent presentations at The Liver Meeting 2021 highlighting the efficacy maralixibat to treat this rare disorder.
As Dr. Vig explains, Alagille syndrome is an inherited 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 transplantation.
In October 2021, the U.S. Food and Drug Administration (FDA) approved maralixibat (Livmarli) for the treatment of cholestatic pruritus in patients with Alagille syndrome one year of age and older.
At the Liver Meeting 2021, data on maralixibat was presented in two late-breaking presentations. The first presentation featured a 6-year analysis of pooled data from maralixibat clinical studies showing significant improvement in event-free survival versus a natural history control cohort. The data demonstrated a 70% overall reduction for clinical outcomes with maralixibat treatment and a statistically significant improvement in 6-year event-free survival (P <.0001). In addition to event-free survival, the analysis showed statistically significant improvements in transplant-free survival (P < .0001).
The second presentation on maralixibat also analyzed event-free survival. These complementary data demonstrated that bilirubin, serum bile acids, and pruritus, were predictors of event-free survival and transplant-free survival. 60 out of 76 patients remained event-free at the time of analysis with up to 6 years of treatment with maralixibat. These data support maralixibat’s potential to have a long-term impact on outcomes for patients with cholestatic pruritus associated with Alagille syndrome and may help to inform medical management for patients.
To learn more about Alagille syndrome and other rare metabolic diseases, visit checkrare.com/diseases/metabolic-disorders/