A study published in The Journal of Pediatrics describes a post hoc analysis of clinical trials evaluating maralixibat in children with Alagille syndrome and its effect on xanthoma severity.
Alagille syndrome is a rare genetic disease that affects the liver and other parts of the body. The liver abnormalities arise from a reduction in small bile ducts that leads to bile accumulation, and liver scarring and damage. Signs and symptoms of Alagille syndrome vary greatly but often include xanthoma. Alagille syndrome is caused by changes in the JAG1 and NOTCH2 genes.
Maralixibat is an ileal bile acid transporter (IBAT) inhibitor indicated for the treatment of patients 3 months and older with Alagille syndrome.
This integrated analysis from the ICONIC (NCT02160782) and ITCH (NCT02057692) trials assessed xanthoma severity using the Clinician Xanthoma Scale (CXS). The severity scores were defined as: CXS 0 = none; CXS 1-2 = moderate; and CXS 3-4 = severe. Other outcomes included changes in serum lipids, serum bile acids (sBA), pruritus, and Pediatric Quality of Life Inventory scores through week 96.
Among 63 children, 43% had xanthomas at baseline. Higher CXS was associated with younger age; elevated sBA, bilirubin, alanine aminotransferase, and gamma-glutamyl transferase; and worse lipid profiles. Quality of life declined with increasing CXS. After 96 weeks of follow-up, mean CXS decreased, and CXS 0 prevalence increased from 60% to 86%. There was a significant decline in cholesterol and sBA. Among participants with baseline CXS 1 or greater, 71% and 64% were xanthoma responders at weeks 48 and 96. Responders had greater cholesterol reductions at week 48 and more frequent pruritus improvement.
To learn more about Alagille syndrome and other rare gastrointestinal conditions, visit https://checkrare.com/diseases/gastrointestinal-diseases/
