Hepatic Histopathology in Urea Cycle Disorders

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

70 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-02-24

Study Completion Date

2026-06-30

Brief Summary

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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.

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Detailed Description

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Urea cycle disorders (UCDs) are among the most common inborn errors of liver metabolism. With early diagnosis and improved treatments, the survival of individuals with UCDs has improved, and this improved survival has led to unmasking of some long-term complications such as hepatic dysfunction and progressive fibrosis in a subset of patients. Hepatic complications in UCDs are quite variable and dependent upon the specific metabolic defect.

Conditions

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

Study Design

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Observational Model Type

COHORT

Study Time Perspective

OTHER

Eligibility Criteria

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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

Eligible Sex

ALL

Accepts Healthy Volunteers

No