Urea Cycle DisorderNCT04908319
Hepatic Histopathology in Urea Cycle Disorders
An observational study of Urea Cycle Disorder and Ornithine Transcarbamylase Deficiency, run by Baylor College of Medicine at 2 sites in United States.
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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency, Citrullinemia 1
- How many people
- 70 participants
- Where
- 2 sitesUnited States
- Study dates
- 24 Feb 2022to 30 Jun 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with urea cycle disorders
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States2 sites, 2 recruiting
- Recruiting
Baylor College of Medicine
Houston, Texas, 77030
Saima Ali, 832-822-4183, saima.ali@bcm.edu
Lindsay Burrage, MD, PhD
- Not yet recruiting
Children's National Medical Center
Washington D.C., District of Columbia, 20010
Kara Simpson, MS, CGC, 202-476-6216, ksimpson@childrensnational.org
Nicholas A Mew, MD
About this study
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.
Read the 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.
- Conditions
- Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency, Citrullinemia 1, ARGI Deficiency, ASL Deficiency, Argininosuccinic Aciduria
- Keywords
- Liver transplant, Liver disease, Liver biopsy, Histopathology
- Medical subject headings
- Urea Cycle Disorders, Inborn, Ornithine Carbamoyltransferase Deficiency Disease, Citrullinemia, Hyperargininemia, Argininosuccinic Aciduria, Carbamoyl-Phosphate Synthase I Deficiency Disease, N-acetyl glutamate synthetase deficiency, Liver Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
Hepatic fibrosis
Staging of fibrosis from histopathology report from the liver biopsy or explant
Measured: Day 1
Steatosis
Grade of steatosis from histopathology report from the liver biopsy or explant
Measured: Day 1
Hepatic glycogenosis
Presence and type of glycogenosis from histopathology report from the liver biopsy or explant
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Jun 2021
- Study start24 Feb 2022
- Primary completion30 Jun 2026 (estimated)
- Study completion30 Jun 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Urea Cycle DisorderStudies of the same condition, open and under way.
- More trials run by Baylor College of MedicineThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 70 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Baylor College of Medicine
- Sponsor type
- University, hospital or other
- Collaborators
- Children's National Research Institute
- Responsible party
- Principal investigator, Lindsay Burrage, Baylor College of Medicine
- Investigators
- Lindsay Burrage, MD, PhD, Principal investigator, Baylor College of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04908319
- Sponsor's protocol ID
- H-51257
- Status last verified
- Jul 2025
- First submitted
- 26 May 2021
- Last updated
- 20 Jul 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 Jul 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Hepatic Histopathology in Urea Cycle Disorders
- ClinicalTrials.gov ID
- NCT04908319
- Acronym / sponsor ID
- H-51257
- Conditions
- Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency, Citrullinemia 1, ARGI Deficiency, ASL Deficiency, Argininosuccinic Aciduria
- Keywords
- Liver transplant, Liver disease, Liver biopsy, Histopathology
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 70 participants (estimated)
- Lead sponsor
- Baylor College of MedicineUniversity, hospital or other
- Collaborators
- Children's National Research Institute
- Study start
- 24 Feb 2022 (actual)
- Primary completion
- 30 Jun 2026 (estimated)
- Study completion
- 30 Jun 2026 (estimated)
- First posted
- 1 Jun 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with urea cycle disorders
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Hepatic fibrosis
Time frame: Day 1
Staging of fibrosis from histopathology report from the liver biopsy or explant
Steatosis
Time frame: Day 1
Grade of steatosis from histopathology report from the liver biopsy or explant
Hepatic glycogenosis
Time frame: Day 1
Presence and type of glycogenosis from histopathology report from the liver biopsy or explant
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Jul 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Lindsay Burrage, MD, PhD principal investigator
Baylor College of Medicine
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Urea Cycle Disorder and Ornithine Transcarbamylase Deficiency, run by Baylor College of Medicine at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 20 Jul 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Saima Ali, MSN (832-822-4183, saima.ali@bcm.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Hepatic fibrosis (time frame: Day 1). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Jul 2025.