Diseases We Study

The Biliary Atresia Research Consortium (BARC) Network studies infants that are diagnosed before the age of six months with Cholestasis (blockage of bile flow). Cholestasis can happen for many different reasons. It can result from a brief illness or from injury to the liver; when these are the causes it will frequently go away without any special treatment. It can be caused by a number of inherited conditions (metabolic disease) that may need treatment. It can be caused by drugs and often goes away when the drug is stopped. Cholestasis can also be the result of more serious liver diseases such as idiopathic neonatal hepatitis or biliary atresia.

What Is Idiopathic Neonatal Hepatitis?

Idiopathic neonatal hepatitis is an irritation of the liver with no known cause. It occurs in newborn babies. Symptoms include jaundice and liver cell changes. It can resemble biliary atresia but is usually a short illness from which children can recover completely. Over 80% of infants with this disease fully recover. The cause of idiopathic neonatal hepatitis does not appear to be related to an infection.

What Is Biliary Atresia?

Biliary atresia is a condition in which the ducts that carry bile from the liver to the gallbladder and small intestine are not normal. These ducts can be injured, blocked, or missing. When the ducts that carry bile out of the liver are closed, bile backs up and damages liver tissue. In time the liver can develop scarring or cirrhosis. The gallbladder may also be abnormal or missing. The cause of Biliary Atresia is unknown. It occurs in one infant in every 15,000 live births. It is a serious disease which requires immediate surgical and medical treatment.

Biliary Atresia

Other Cholestatic Liver Diseases of Infancy

Babies with jaundice and liver disease who are 0-180 days of age may be eligible for enrollment in BARC studies. Jaundiced babies who are enrolled in BARC and are found to have a diagnosis other than biliary atresia or neonatal hepatitis may also be eligible for enrollment in CLiC (Cholestatic Liver Diseases of Childhood) studies.

The five diseases being studied in CLiC are:

• Alagille Syndrome
• Alpha-1 Antitrypsin Deficiency (Alpha-1)
• Bile Acid Synthesis Defect
• Progressive Familial Intrahepatic Cholestasis (PFIC)
• Mitochondrial Hepatopathy

Information on these five conditions can be found at the CLiC website.