RecruitingNCT04908319

Hepatic Histopathology in Urea Cycle Disorders

Sponsor

Baylor College of Medicine

Enrollment

70 participants

Start Date

Feb 24, 2022

Study Type

OBSERVATIONAL

Conditions

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

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

Inclusion Criteria3

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 Criteria3

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

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