Cholestasis Long-term Observation: The LOGIC Study

Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis (LOGIC)

Protocol Description

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 the Children’s Hospital of Pittsburgh of UPMC through the University of Pittsburgh.

Eligibility Criteria

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

Requirements

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. Children participating will also be assessed for mental, motor and behavioral development. Other tests, such as hearing tests, may also be conducted.
Visits: 1 per year
Duration: Up to 10 years

Status: Open for Enrollment

Source(s) of Support

National Institute of Diabetes and Digestive and Kidney Diseases

Primary Investigator

Robert H. Squires, MD

Contact Information

For more information about this study or enrollment, please contact:
Kathy Bukauskas, RN, CCRC
412-692-7703