Hepatic Histopathology in Urea Cycle Disorders

Recruiting Observational Study
Urea Cycle Disorder Ornithine Transcarbamylase Deficiency Citrullinemia 1 ARGI Deficiency ASL Deficiency Argininosuccinic Aciduria ASS Deficiency Hyperargininemia Carbamyl Phosphate Synthetase Deficiency NAGS Deficiency
No Study Drug Researchers observe your health over time — no experimental treatment is given.
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At a Glance
Sex
Any
Study type
Observational
Participants needed
70 (estimated)
Sponsor
Baylor College of Medicine · Other
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About This Trial

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.

Trial Locations
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Eligibility Criteria
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: * Unavaila…
Contacts

Saima Ali, MSN

832-822-4183

saima.ali@bcm.edu

CONTACT