Cholestasis Natural History Database: The PROBE Study

A Prospective Database of Infants with Cholestasis

Protocol Description

This collaborative study by the Childhood Liver Disease Research Network (ChiLDReN) builds a prospective database with demographic and clinical information about infants with cholestatic disease and their families. The database provides a means of prospectively following this group over time to characterize the natural history of the disease and to identify environmental, infectious and genetic risk factors related to onset, outcome and treatment success for the different cholestatic diseases, with special emphasis on biliary atresia. The study also maintains repositories for blood, bile, and tissue samples from these children and blood samples from their biological parents for future research studies on liver diseases. The study will take place at UPMC Children’s Hospital of Pittsburgh through the University of Pittsburgh.

Eligibility Criteria

Infants no older than 6 months, with a diagnosis of clinically meaningful cholestasis due to primary hepatobiliary disease.
Boys and Girls: Newborn through 180 days


Participants will have a series of visits for physical examinations that will include collection of blood samples, as would normally be done through routine clinic visits for patients with cholestasis. Visits generally are scheduled at 1, 2, 3 and 6 months following diagnosis and at 12, 18 and 24 months of age, and then annually. Information regarding the patient’s medical history and health care provider visits, prescribed medications, and diet will be obtained at each visit through personal interview. To help researchers track the natural progression of participants' condition, they will be followed through the age of 20 or until liver transplantation. Children without biliary atresia will be followed until complete recovery, off all therapy, or 12 months of age, whichever is later.
Visits: Up to 25
Duration: Up to 20 years

Status: Open to Enrollment

Source(s) of Support

National Institute of Diabetes and Digestive and Kidney Diseases

Primary Investigator

Simon Horslen, MD

Contact Information

For more information about the study or enrollment, please contact:
Susan Richey, RN