Status:
RECRUITING
Hepatic Histopathology in Urea Cycle Disorders
Lead Sponsor:
Baylor College of Medicine
Collaborating Sponsors:
Children's National Research Institute
Conditions:
Urea Cycle Disorder
Ornithine Transcarbamylase Deficiency
Eligibility:
All Genders
Brief Summary
This is a multi-site, retrospective chart review as well as a prospective study to evaluate histopathologic findings in liver samples from individuals with any UCD diagnosis. This study will be conduc...
Detailed Description
Urea cycle disorders (UCDs) are among the most common inborn errors of liver metabolism. With early diagnosis and improved treatments, the survival of individuals with UCDs has improved, and this impr...
Eligibility Criteria
Inclusion
- 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
- 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
Key Trial Info
Start Date :
February 24 2022
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
June 30 2026
Estimated Enrollment :
70 Patients enrolled
Trial Details
Trial ID
NCT04908319
Start Date
February 24 2022
End Date
June 30 2026
Last Update
July 20 2025
Active Locations (2)
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1
Children's National Medical Center
Washington D.C., District of Columbia, United States, 20010
2
Baylor College of Medicine
Houston, Texas, United States, 77030