RECRUITING

Hepatic Histopathology in Urea Cycle Disorders

Description

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 DisorderOrnithine Transcarbamylase DeficiencyCitrullinemia 1ARGI DeficiencyASL DeficiencyArgininosuccinic AciduriaASS DeficiencyHyperargininemiaCarbamyl Phosphate Synthetase DeficiencyNAGS Deficiency
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Related Conditions:

Urea Cycle DisorderOrnithine Transcarbamylase DeficiencyCitrullinemia 1ARGI DeficiencyASL DeficiencyArgininosuccinic AciduriaASS DeficiencyHyperargininemiaCarbamyl Phosphate Synthetase DeficiencyNAGS Deficiency

Study Overview

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Study Details

Study overview

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.

Hepatic Histopathology in Urea Cycle Disorders

Hepatic Histopathology in Urea Cycle Disorders

Condition
Urea Cycle Disorder
Intervention / Treatment

-

Contacts and Locations

Washington

Children's National Medical Center, Washington, District of Columbia, United States, 20010

Houston

Baylor College of Medicine, Houston, Texas, United States, 77030

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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
  • * 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

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Baylor College of Medicine,

Lindsay Burrage, MD, PhD, PRINCIPAL_INVESTIGATOR, Baylor College of Medicine

Study Record Dates

2025-06-30