Studies Open for Enrollment

Screening for Genetic Mechanisms for Biliary Atresia

This research study will investigate the role genetic factors play in the development of the embryonic form of biliary atresia. Some infants with biliary atresia are born with abnormalities in other organs of the body such as the spleen, intestine, heart and abdominal blood vessels. This study will examine whether those children with biliary atresia who also have abnormalities of other organs also have chromosomal alterations. Part of a national study being conducted at the 10 Biliary Atresia Research Consortium (BARC) sites throughout the country, a total of 20 children are expected to participate, including 2 from Children’s Hospital of Pittsburgh of UPMC.

Candidates
Infants and children who are enrolled in the study, “A Prospective Database of Infants with Cholestasis” and have biliary atresia plus one or more certain congenital abnormalities (of the spleen, intestine, heart, abdominal blood vessels, etc.) are eligible to take part in this study. Participants in the study will include males and females from all racial and ethnic groups.
Boys: Newborn through 10 years
Girls: Newborn through 10 years

Requirements
Children currently participating or who have participated in the Biliary Atresia Research Consortium (BARC) database study and are eligible for this study will be asked to provide a blood sample for this study. The blood sample will be collected at the time of a regularly scheduled visit to the database study at age 18 months or older.
Visits: 1
Duration: Not applicable

Status: Open for Enrollment

How to Participate
To get started, please contact:
Beverly Bernard, CRNP
412-692-5811

Additional Resources
Biliary Atresia
Additional information on the Prospective Database of Infants with Cholestasis

Principal Investigator
David H. Perlmutter, MD
Pediatric Medicine

Source of Support
National Institutes of Health