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Hepatic Histopathology in Urea Cycle Disorders
RecruitingObservational study
Who can join
All ages · All sexes
Full 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
About the study
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 conducted at all Urea Cycle Disorders Consortium (UCDC) sites: Baylor College of Medicine in Houston, TX and Children's National Medical Center in Washington D.C.
Sponsor: Baylor College of Medicine · Participants: 70 · Started: Feb 24, 2022
Contact the study team
- Saima Ali, MSN · Phone: 832-822-4183
Official record on ClinicalTrials.gov — NCT04908319
Locations in the U.S.
| District of Columbia | Children's National Medical Center, Washington D.C. (Not yet recruiting) |
| Texas | Baylor College of Medicine, Houston |
Conditions
From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.