Recruiting

Observational Study

Sponsor:

Baylor College of Medicine

Code:

NCT04908319

Conditions

Urea Cycle Disorder

Ornithine Transcarbamylase Deficiency

Citrullinemia 1

ARGI Deficiency

ASL Deficiency

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief 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.

Conditions

Urea Cycle Disorder

Ornithine Transcarbamylase Deficiency

Citrullinemia 1

ARGI Deficiency

ASL Deficiency

Study ID

NCT04908319

Start date

Feb 24, 2022

Status verified date

Jul, 2025

Completion date

Jun 30, 2026

Anticipated

Primary completion date

Jun 30, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

70 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Hepatic fibrosis [ Time Frame: Day 1 ]
  • Steatosis [ Time Frame: Day 1 ]
  • Hepatic glycogenosis [ Time Frame: Day 1 ]

Central Contacts and Locations

Central contacts

Saima Ali, MSN

832-822-4183saima.ali@bcm.edu

Locations

Baylor College of Medicine

Recruiting

Houston, Texas, United States, 77030

Contacts

Saima Ali

832-822-4183saima.ali@bcm.edu

Principal Investigator:

Lindsay Burrage, MD, PhD

More Information

Sponsor

Baylor College of Medicine

Last update posted

Jul 20, 2025

Last verified

Jul, 2025

Keywords

  • Liver transplant
  • Liver disease
  • Liver biopsy
  • Histopathology

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Baylor College of Medicine on 2025-07-20.