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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT04908319
Other study ID # H-51257
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date February 24, 2022
Est. completion date June 30, 2025

Study information

Verified date May 2024
Source Baylor College of Medicine
Contact Saima Ali, MSN
Phone 832-822-4183
Email saima.ali@bcm.edu
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.


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.


Recruitment information / eligibility

Status Recruiting
Enrollment 70
Est. completion date June 30, 2025
Est. primary completion date June 30, 2025
Accepts healthy volunteers No
Gender All
Age group N/A and older
Eligibility 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

Study Design


Related Conditions & MeSH terms


Locations

Country Name City State
United States Baylor College of Medicine Houston Texas
United States Children's National Medical Center Washington District of Columbia

Sponsors (2)

Lead Sponsor Collaborator
Baylor College of Medicine Children's National Research Institute

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Primary Hepatic fibrosis Staging of fibrosis from histopathology report from the liver biopsy or explant Day 1
Primary Steatosis Grade of steatosis from histopathology report from the liver biopsy or explant Day 1
Primary Hepatic glycogenosis Presence and type of glycogenosis from histopathology report from the liver biopsy or explant Day 1
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