RecruitingNCT04908319

Hepatic Histopathology in Urea Cycle Disorders


Sponsor

Baylor College of Medicine

Enrollment

70 participants

Start Date

Feb 24, 2022

Study Type

OBSERVATIONAL

Conditions

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 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.


Eligibility

Plain Language Summary

Simplified for easier understanding

This study collects and examines liver tissue from people with urea cycle disorders — rare genetic conditions where the liver cannot properly process nitrogen from protein, leading to toxic ammonia buildup. The researchers want to understand what liver damage looks like in these conditions and how it relates to disease severity. You may be eligible if: - You have been diagnosed with a primary urea cycle disorder confirmed by enzyme activity, DNA testing, or metabolite analysis - You have already had a liver transplant or liver biopsy, OR you are scheduled for one You may NOT be eligible if: - The liver tissue, biopsy report, or pathology slides are unavailable - You have a known secondary cause of liver disease (such as viral hepatitis, alcohol-related liver disease, autoimmune liver disease, or TPN-related cholestasis) Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Locations(2)

Children's National Medical Center

Washington D.C., District of Columbia, United States

Baylor College of Medicine

Houston, Texas, United States

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NCT04908319


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