Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis (LOGIC)
Cholestasis is a condition in which bile is not properly transported from the liver to the small intestine. Cholestasis can be caused by an array of childhood diseases, including the genetic diseases Alagille syndrome (ALGS), alpha-1 antitrypsin (a-1AT) deficiency, bile acid synthesis and metabolism defects, and progressive familial intrahepatic cholestasis (PFIC) or benign recurrent intrahepatic cholestasis(BRIC). This study will investigate the natural history and progression of the four previously mentioned cholestatic liver diseases to provide a better understanding of the causes and effects of the diseases.
• Children and young adults diagnosed with one of the four cholestatic diseases from birth through 25 years old.
• Siblings of participants with alpha-1-antitrypsin deficiency, who are affected with alpha-1-antitrypsin deficiency, but have no evidence of liver disease.
• Both sexes, all races and ethnic groups.
• Participant meets the enrollment criteria for one of the four cholestatic liver diseases.
• Patient and/or parent/legal guardian have the ability to provide written informed consent for enrollment.