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Observational Study of Liver Health in Urea Cycle Disorders

This study is looking at liver health in people with Urea Cycle Disorders (UCDs), including Ornithine Transcarbamylase Deficiency, Citrullinemia 1, ARGI Deficiency, and ASL Deficiency. Researchers want to understand how UCDs affect the liver by looking at liver tissue samples. They will be checking for things like liver scarring (hepatic fibrosis), fat in the liver (steatosis), and abnormal sugar storage (hepatic glycogenosis) on the first day of the study. You could join if you have a confirmed UCD diagnosis and have had a liver transplant or biopsy, or are planning to have one. The study is currently unclear on its recruitment status.

Study design
This is an observational study involving up to 70 participants. It's a multi-site study, looking back at existing medical records and also collecting new information.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
The primary liver health measurements are taken on Day 1.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT04908319

Hepatic Histopathology in Urea Cycle Disorders

Recruiting
Not specifiedAll AgesObservational
Baylor College of Medicine
~70 participants
Updated 2025-07-20 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 2 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Hepatic fibrosis
Measured over Day 1
+2 more outcomes measured

Conditions

Urea Cycle Disorder
Ornithine Transcarbamylase Deficiency
Citrullinemia 1
ARGI Deficiency
ASL Deficiency
Argininosuccinic Aciduria
ASS Deficiency
Hyperargininemia
Carbamyl Phosphate Synthetase Deficiency
NAGS Deficiency

Explore related trials

ArgininemiaArgininosuccinic AciduriaCarbamoyl-Phosphate Synthetase I DeficiencyCitrullinemiaN-Acetylglutamate Synthase DeficiencyOrnithine Carbamoyltransferase Deficiency DiseaseUrea Cycle Metabolism Disorder

Where it's being run

2 sites across 2 states
District of Columbia1
Texas1

Study leadership

  • Lindsay Burrage, MD, PhD · PRINCIPAL_INVESTIGATOR · Baylor College of Medicine

Who to contact

Saima Ali, MSN
[email protected]
832-822-4183
Email the study team

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Do you actually qualify for this trial?

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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

What this trial measures

  • Hepatic fibrosisDay 1

    Staging of fibrosis from histopathology report from the liver biopsy or explant

  • SteatosisDay 1

    Grade of steatosis from histopathology report from the liver biopsy or explant

  • Hepatic glycogenosisDay 1

    Presence and type of glycogenosis from histopathology report from the liver biopsy or explant