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Hepatic Histopathology in Urea Cycle Disorders

RECRUITINGSponsored by Baylor College of Medicine
Actively Recruiting
SponsorBaylor College of Medicine
Started2022-02-24
Est. completion2026-06-30
Eligibility
Healthy vol.Accepted
Locations2 sites
View on ClinicalTrials.gov →

NCT04908319

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

Healthy volunteers 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

Conditions11

ARGI DeficiencyASL DeficiencyASS DeficiencyArgininosuccinic AciduriaCarbamyl Phosphate Synthetase DeficiencyCitrullinemia 1HyperargininemiaLiver DiseaseNAGS DeficiencyOrnithine Transcarbamylase Deficiency

Locations2 sites

District of Columbia

1 site
Children's National Medical Center
Washington D.C., District of Columbia, 20010
Kara Simpson, MS, CGC202-476-6216ksimpson@childrensnational.org

Texas

1 site
Baylor College of Medicine
Houston, Texas, 77030
Saima Ali832-822-4183saima.ali@bcm.edu

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Trial data from ClinicalTrials.gov. Trial status and eligibility can change — verify directly with the study contact or on ClinicalTrials.gov.

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