Hepatic Histopathology in Urea Cycle Disorders

Launched by BAYLOR COLLEGE OF MEDICINE · May 26, 2021

Keywords

ClinConnect Summary

This clinical trial is studying the liver health of individuals with various urea cycle disorders (UCDs), which are conditions that affect how the body breaks down proteins. Researchers want to learn more about the liver changes that occur in people diagnosed with these disorders by reviewing liver samples from those who have had a liver transplant or a liver biopsy. The study will be conducted at two main locations: Baylor College of Medicine in Houston, Texas, and Children's National Medical Center in Washington, D.C.

To be eligible for this trial, participants need to have a confirmed diagnosis of a primary urea cycle disorder. This means that their diagnosis should be based on medical evaluations, such as blood or tissue tests that show specific enzyme activity or genetic changes. Participants should have a history of liver biopsy or transplantation, or they should be scheduled for one of these procedures. It’s important to note that individuals with other known causes of liver disease will not be included in the study. If you take part, you can expect the researchers to carefully analyze your liver samples to better understand the impact of UCDs on liver health.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Diagnosis of primary urea cycle disorder based on clinical suspicion confirmed by enzyme activity, DNA testing or metabolite analysis.
• • History of liver transplantation and/or liver biopsy OR
• • Planned liver transplantation and/or liver biopsy
• Exclusion Criteria:
• • Unavailability of histopathology report from the liver biopsy or explant, or unavailability of liver tissue or slides from the biopsy or explant OR
• • Anticipated inability to obtain pathology report, liver disease, tissue blocks, or pathology slides after liver biopsy or transplantation
• • Known history of a secondary cause for liver disease such as chronic viral hepatitis, autoimmune liver disease, short gut, small bowel syndrome, alcohol liver disease, or TPN-related cholestatic disease