Actively Recruiting
Hepatic Histopathology in Urea Cycle Disorders
Led by Baylor College of Medicine · Updated on 2025-07-20
70
Participants Needed
2
Research Sites
N/A
Total Duration
On this page
Sponsors
B
Baylor College of Medicine
Lead Sponsor
C
Children's National Research Institute
Collaborating Sponsor
AI-Summary
What this Trial Is About
Urea cycle disorders (UCDs) are common inherited liver metabolism conditions. Improved diagnosis and treatments have increased survival rates, revealing some long-term liver complications like dysfunction and fibrosis in some patients. These liver issues vary depending on the specific metabolic defect causing the disorder. The study aims to better understand these complications by examining liver tissue samples from individuals diagnosed with any UCD. This research involves reviewing past medical records and prospectively collecting liver tissue samples from patients with confirmed UCD diagnoses. It includes individuals who have had or are planning to have liver biopsies or transplants. This observational study is conducted across multiple centers within the Urea Cycle Disorders Consortium, including Baylor College of Medicine and Children’s National Medical Center. Participants' liver samples will be evaluated for fibrosis, fat accumulation (steatosis), and glycogen buildup (hepatic glycogenosis). Researchers will analyze histopathology reports, biopsy slides, and tissue blocks to identify these outcomes. The study collects data retrospectively and prospectively, tracking histological changes to better understand liver complications in UCD. Participation involves no interventions and focuses on reviewing existing and new liver tissue findings until study completion in June 2026.
CONDITIONS
Brief Title
Hepatic Histopathology in Urea Cycle Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of primary urea cycle disorder 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
You will not qualify if you...
- Lack of available histopathology report, liver tissue, or slides from liver biopsy or transplant
- Expected inability to obtain pathology report, liver disease tissue blocks, or pathology slides after liver biopsy or transplant
- Known secondary liver disease such as chronic viral hepatitis, autoimmune liver disease, short gut syndrome, small bowel syndrome, alcohol liver disease, or TPN-related cholestatic disease
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - Day 1
Participants undergo liver biopsy or liver transplantation to collect hepatic tissue for histopathology analysis.
1 visit (in-person)
Duration - Up to study completion date
Participants are observed for hepatic complications such as fibrosis, steatosis, and glycogenosis following tissue analysis.
Trial Site Locations
Total: 2 locations
1
Children's National Medical Center
Washington D.C., District of Columbia, United States, 20010
Not Yet Recruiting
2
Baylor College of Medicine
Houston, Texas, United States, 77030
Actively Recruiting
Research Team
S
Saima Ali, MSN
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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