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Hepatic Histopathology in Urea Cycle Disorders

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ClinicalTrials.gov Identifier: NCT04908319
Recruitment Status : Recruiting
First Posted : June 1, 2021
Last Update Posted : May 6, 2023
Children's National Research Institute
Information provided by (Responsible Party):
Lindsay Burrage, Baylor College of Medicine

Brief 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.

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

Detailed Description:
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.

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Study Type : Observational
Estimated Enrollment : 70 participants
Observational Model: Cohort
Time Perspective: Other
Official Title: Hepatic Histopathology in Urea Cycle Disorders
Actual Study Start Date : February 24, 2022
Estimated Primary Completion Date : June 30, 2025
Estimated Study Completion Date : June 30, 2025

Primary Outcome Measures :
  1. Hepatic fibrosis [ Time Frame: Day 1 ]
    Staging of fibrosis from histopathology report from the liver biopsy or explant

  2. Steatosis [ Time Frame: Day 1 ]
    Grade of steatosis from histopathology report from the liver biopsy or explant

  3. Hepatic glycogenosis [ Time Frame: Day 1 ]
    Presence and type of glycogenosis from histopathology report from the liver biopsy or explant

Biospecimen Retention:   Samples Without DNA
Frozen liver samples, liver histology blocks/slides

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals with urea cycle disorders

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04908319

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Contact: Saima Ali, MSN 832-822-4183 saima.ali@bcm.edu

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United States, District of Columbia
Children's National Medical Center Not yet recruiting
Washington, District of Columbia, United States, 20010
Contact: Kara Simpson, MS, CGC    202-476-6216    ksimpson@childrensnational.org   
Principal Investigator: Nicholas A Mew, MD         
United States, Texas
Texas Children's Hospital Recruiting
Houston, Texas, United States, 77030
Contact: Saima Ali, MSN    832-822-4183    sma1@bcm.edu   
Sponsors and Collaborators
Baylor College of Medicine
Children's National Research Institute
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Principal Investigator: Lindsay Burrage, MD, PhD Baylor College of Medicine
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Responsible Party: Lindsay Burrage, Principal Investigator, Baylor College of Medicine
ClinicalTrials.gov Identifier: NCT04908319    
Other Study ID Numbers: H-51257
First Posted: June 1, 2021    Key Record Dates
Last Update Posted: May 6, 2023
Last Verified: May 2023

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Lindsay Burrage, Baylor College of Medicine:
Liver transplant
Liver disease
Liver biopsy
Additional relevant MeSH terms:
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Urea Cycle Disorders, Inborn
Ornithine Carbamoyltransferase Deficiency Disease
Argininosuccinic Aciduria
Carbamoyl-Phosphate Synthase I Deficiency Disease
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Genetic Diseases, X-Linked
Mitochondrial Diseases