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This long-term observational study is being done to learn more about four liver diseases in which the flow of bile is poor, a condition known as cholestasis. Cholestatic liver diseases in children and young adults are serious, and not enough is known about their causes or long-term effects. The diseases being studied include Alagille syndrome (AGS), Alpha-1-antitrypsin deficiency (Alpha-1 or ATD), progressive familial intrahepatic cholestasis (PFIC) and bile acid synthesis defects. Through this study, the Childhood Liver Disease Research Network (ChiLDReN) will collect and share medical data from participants to help researchers better understand the causes and effects of the diseases over time. The study will take place at UPMC Children’s Hospital of Pittsburgh through the University of Pittsburgh.
Subject to certain exclusion criteria, the study is open to individuals of both genders, from birth through age 25, who have been diagnosed with one of the four diseases being studied.
Males and Females: Birth through age 25
Medical record information and blood and urine samples will be collected for each participant. Sample collection for research purposes will be planned whenever possible to occur at the same time it is being done for routine clinical tests. Biological parents will also be asked to participate by providing family history and blood or saliva samples for DNA analysis.
Visits: 1 per year
Duration: Up to 20 years
National Institute of Diabetes and Digestive and Kidney Diseases
Study Description at National Institutes of Health
Childhood Liver Disease Research Network
Patrick McKiernan, MD
For more information about this study or enrollment, please contact:
Kathryn Bukauskas, RN, CCRC
Amanda Blasko, RN
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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