Evaluating liver tissue in patients with urea cycle disorders
Official title: Hepatic Histopathology in Urea Cycle Disorders
Run by Baylor College of Medicine · NCT04908319 · Data updated 2026-11-12
This study looks at liver tissue from people with urea cycle disorders to see how these conditions affect the liver, especially in those who have had a liver transplant or biopsy.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 70 (estimated) |
| Sponsor | Baylor College of Medicine Academic / other |
| Locations | 2 sites (Washington D.C., District of Columbia and 1 other locations) |
| Status | Recruiting |
| Started | February 24, 2022 |
| Main results expected | June 30, 2026 |
| Study ends | June 30, 2026 |
| Registry record updated | July 20, 2025 |
| Trial ID | NCT04908319 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals diagnosed with primary urea cycle disorders who have a history of or are planned for liver transplantation or biopsy.
✕Probably not a fit
Patients with secondary causes of liver disease or those unable to provide necessary histopathology reports will not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study involves a multi-site, retrospective chart review and prospective evaluation of liver histopathology in individuals diagnosed with urea cycle disorders (UCDs). Conducted at Baylor College of Medicine and Children's National Medical Center, the study aims to assess liver samples to understand the histopathologic findings associated with various UCDs. The research focuses on the long-term hepatic complications that may arise due to these metabolic disorders, particularly in patients who have undergone liver transplantation or biopsy.
Why it matters
Potential benefit: If successful, this study could enhance understanding of liver complications in urea cycle disorders, potentially leading to improved management strategies.
How similar studies have gone: While studies on liver histopathology in metabolic disorders exist, this specific approach focusing on urea cycle disorders is relatively novel.
Who can join: the full rules
Show full inclusion / exclusion 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
Where it's running
-
Baylor College of Medicine
Houston, Texas, United States Recruiting -
Children's National Medical Center
Washington D.C., District of Columbia, United States Not yet recruiting
Study contacts
- Principal investigator: Lindsay Burrage, MD, PhD — Baylor College of Medicine
- Study coordinator: Saima Ali, MSN
- Email: saima.ali@bcm.edu
- Phone: 832-822-4183
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.