Urea Cycle DisorderNCT04612764
Liver Disease in Urea Cycle Disorders
An observational study of Urea Cycle Disorder and Ornithine Transcarbamylase Deficiency, run by Baylor College of Medicine at 5 sites in United States.
Trial summary
This is a multi-center, cross-sectional study to assess risk for liver fibrosis and hepatic injury in individuals with urea cycle disorders (UCDs) using serum biomarkers, Fibroscan, and MRE. Read more about this study
- Who is it for?
- Ages 6 to 65 years
- Conditions the study is for
- Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency, Citrullinemia 1
- How many people
- 62 participants
- Where
- 5 sitesUnited States
- Study dates
- 4 Nov 2021to 31 Dec 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 6 to 65 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with urea cycle disorders
Who may be able to join
- Age > 6 years and < 65 years
- Weight ≥ 11 kg at time of screening
- A molecular or biochemical diagnosis of OTCD, ASS1D, ASLD, or ARG1D.
Who cannot join
- Prior liver transplantation
- Episode of acute hyperammonemia (≥100 umol/L) in the 30 days prior to enrollment
- Confirmed diagnosis of chronic viral hepatitis, autoimmune liver disease, short gut, small bowel syndrome, alcohol liver disease, TPN requirement, or TPN-related cholestatic disease
- Adults with BMI ≥ 45 kg/m2
- Current pregnancy
- Open wound near expected Fibroscan® probe application site
Show all 16Show fewer
- Use of implantable active medical device such as cardiac pacemaker or implantable cardioverter-defibrillator
- Stage B Inclusion Criteria
- Participation in Stage A of this study
- Individuals with claustrophobia or other inability to complete
- Known diagnosis of hemochromatosis
- Presence of implants or devices incompatible with MRI
- Inability to breath-hold for 20 seconds for the elastography sequence
- Current pregnancy
- Confirmed diagnosis of chronic viral hepatitis, autoimmune liver disease, short gut, small bowel syndrome, alcohol liver disease, TPN requirement, or TPN-related cholestatic disease
- Episode of documented acute hyperammonemia (ammonia ≥ 100 umol/L) in the 30 days prior to scheduled visit for Stage B
Trial locations and contacts
5 sites in 1 country.
5 sites in 1 country
United States5 sites
Children's Hospital Colorado
Aurora, Colorado, 80045
Baylor College of Medicine
Houston, Texas, 77030
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
Seattle Children's Hospital
Seattle, Washington, 98105
Children's National Medical Center
Washington D.C., District of Columbia, 20010
About this study
Official title: Noninvasive Biomarkers of Hepatic Fibrosis in Urea Cycle Disorders
This is a multi-center, cross-sectional study to assess risk for liver fibrosis and hepatic injury in individuals with urea cycle disorders (UCDs) using serum biomarkers, Fibroscan, and MRE. This study will be conducted at 5 sites of the Urea Cycle Disorders Consortium: Baylor College of Medicine in Houston, TX, Seattle Children's Hospital in Seattle, WA, Children's Hospital Colorado in Aurora, CO, Children's Hospital of Philadelphia in Philadelphia, PA, 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.
Currently, there are no guidelines for monitoring hepatic complications or extent of liver disease in UCDs. The gold standard for staging of fibrosis or confirming cirrhosis has traditionally been liver biopsy, an invasive procedure with inherent risks, particularly in the setting of a UCD and compromised coagulation. Recently, non-invasive serum and imaging-based biomarkers have been introduced to assess hepatic fibrosis in adults and children who are at increased risk. Utilization of these technique in individuals with UCDs could be invaluable in both the research and clinical arenas.
The purpose of this study is:
- To assess risk for increased fibrosis using serum biomarkers and/or VCTE in distal disorders (ASS1D, ASLD and ARG1D) as compared to OTCD 2 ) To assess risk for hepatic fibrosis (liver stiffness as measured by MRE) in individuals with UCDs who have abnormal serum biomarkers and/or VCTE as those who have normal values
- Conditions
- Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency, Citrullinemia 1, ARGI Deficiency, ASL Deficiency, Argininosuccinic Aciduria
- Keywords
- Liver disease, Fibroscan, Magnetic resonance elastography, Fibrotest
- Medical subject headings
- Urea Cycle Disorders, Inborn, Ornithine Carbamoyltransferase Deficiency Disease, Citrullinemia, Hyperargininemia, Argininosuccinic Aciduria, Liver Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
Fibrotest
Fibrotest(TM)
Measured: One measurement made on the 1 day of the study visit (stage A)
Fibroscan (liver stiffness)
Liver stiffness (kPa) as assessed by Fibroscan®
Measured: One measurement made on the 1 day of the study visit (stage A)
Fibroscan (CAP)
Controlled Attenuation Parameter (CAPTM in dB/m) as assessed by Fibroscan®
Measured: One measurement made on the 1 day of the study visit (stage A)
MRE
Liver stiffness (kPa) as measured by MRE
Measured: One measurement made on the 1 day of the study visit (stage B)
Secondary outcomes (9)
Albumin
Albumin
Measured: One measurement made on the 1 day of the study visit (stage A)
Liver Enzymes
Aspartate aminotransferase, Alanine aminotransaminase, and Gamma glutamyl transferase
Measured: One measurement made on the 1 day of the study visit (Stage A)
Total Bilirubin
Total Bilirubin
Measured: One measurement made on the 1 day of the study visit (stage A)
Prothrombin time
Prothrombin time
Measured: One measurement made on the 1 day of the study visit (stage A)
INR
INR
Measured: One measurement made on the 1 day of the study visit (stage A)
AST-to-Platelet Ratio (APRI)
AST-to-Platelet Ratio (APRI)
Measured: One measurement made on the 1 day of the study visit (stage A)
GGT-to-Platelet Ratio (GPR)
GGT-to-Platelet Ratio (GPR)
Measured: One measurement made on the 1 day of the study visit (stage A)
Fibrosis-4 (FIB-4) Index
Fibrosis-4 (FIB-4) Index
Measured: One measurement made on the 1 day of the study visit (stage A)
MRE
Fat fraction (%) as measured by MRE
Measured: One measurement made on the 1 day of the study visit (stage B)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Nov 2020
- Study start4 Nov 2021
- Primary completion31 Dec 2026 (estimated)
- Study completion31 Dec 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
- Other
- Time perspective
- Cross-sectional
- Enrolment
- 62 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Baylor College of Medicine
- Sponsor type
- University, hospital or other
- Collaborators
- Children's National Research Institute, Seattle Children's Hospital, Children's Hospital Colorado, Children's Hospital of Philadelphia
- 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
- NCT04612764
- Sponsor's protocol ID
- H-50295
- Status last verified
- Apr 2026
- First submitted
- 22 Oct 2020
- Last updated
- 27 Apr 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Noninvasive Biomarkers of Hepatic Fibrosis in Urea Cycle Disorders
- ClinicalTrials.gov ID
- NCT04612764
- Acronym / sponsor ID
- H-50295
- Conditions
- Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency, Citrullinemia 1, ARGI Deficiency, ASL Deficiency, Argininosuccinic Aciduria
- Keywords
- Liver disease, Fibroscan, Magnetic resonance elastography, Fibrotest
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 62 participants (estimated)
- Lead sponsor
- Baylor College of MedicineUniversity, hospital or other
- Collaborators
- Children's National Research Institute, Seattle Children's Hospital, Children's Hospital Colorado, Children's Hospital of Philadelphia
- Study start
- 4 Nov 2021 (actual)
- Primary completion
- 31 Dec 2026 (estimated)
- Study completion
- 31 Dec 2026 (estimated)
- First posted
- 3 Nov 2020 (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-center, cross-sectional study to assess risk for liver fibrosis and hepatic injury in individuals with urea cycle disorders (UCDs) using serum biomarkers, Fibroscan, and MRE. This study will be conducted at 5 sites of the Urea Cycle Disorders Consortium: Baylor College of Medicine in Houston, TX, Seattle Children's Hospital in Seattle, WA, Children's Hospital Colorado in Aurora, CO, Children's Hospital of Philadelphia in Philadelphia, PA, 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.
Currently, there are no guidelines for monitoring hepatic complications or extent of liver disease in UCDs. The gold standard for staging of fibrosis or confirming cirrhosis has traditionally been liver biopsy, an invasive procedure with inherent risks, particularly in the setting of a UCD and compromised coagulation. Recently, non-invasive serum and imaging-based biomarkers have been introduced to assess hepatic fibrosis in adults and children who are at increased risk. Utilization of these technique in individuals with UCDs could be invaluable in both the research and clinical arenas.
The purpose of this study is:
- To assess risk for increased fibrosis using serum biomarkers and/or VCTE in distal disorders (ASS1D, ASLD and ARG1D) as compared to OTCD 2 ) To assess risk for hepatic fibrosis (liver stiffness as measured by MRE) in individuals with UCDs who have abnormal serum biomarkers and/or VCTE as those who have normal values
Study design
- Observational model
- Other
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 6 to 65 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with urea cycle disorders
Key inclusion criteria (3 listed)
- Age > 6 years and < 65 years
- Weight ≥ 11 kg at time of screening
- A molecular or biochemical diagnosis of OTCD, ASS1D, ASLD, or ARG1D.
Key exclusion criteria (16 listed)
- Prior liver transplantation
- Episode of acute hyperammonemia (≥100 umol/L) in the 30 days prior to enrollment
- Confirmed diagnosis of chronic viral hepatitis, autoimmune liver disease, short gut, small bowel syndrome, alcohol liver disease, TPN requirement, or TPN-related cholestatic disease
- Adults with BMI ≥ 45 kg/m2
- Current pregnancy
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
Fibrotest
Time frame: One measurement made on the 1 day of the study visit (stage A)
Fibrotest(TM)
Fibroscan (liver stiffness)
Time frame: One measurement made on the 1 day of the study visit (stage A)
Liver stiffness (kPa) as assessed by Fibroscan®
Fibroscan (CAP)
Time frame: One measurement made on the 1 day of the study visit (stage A)
Controlled Attenuation Parameter (CAPTM in dB/m) as assessed by Fibroscan®
MRE
Time frame: One measurement made on the 1 day of the study visit (stage B)
Liver stiffness (kPa) as measured by MRE
9 secondary outcomes
Albumin
Time frame: One measurement made on the 1 day of the study visit (stage A)
Liver Enzymes
Time frame: One measurement made on the 1 day of the study visit (Stage A)
Total Bilirubin
Time frame: One measurement made on the 1 day of the study visit (stage A)
Prothrombin time
Time frame: One measurement made on the 1 day of the study visit (stage A)
INR
Time frame: One measurement made on the 1 day of the study visit (stage A)
AST-to-Platelet Ratio (APRI)
Time frame: One measurement made on the 1 day of the study visit (stage A)
GGT-to-Platelet Ratio (GPR)
Time frame: One measurement made on the 1 day of the study visit (stage A)
Fibrosis-4 (FIB-4) Index
Time frame: One measurement made on the 1 day of the study visit (stage A)
MRE
Time frame: One measurement made on the 1 day of the study visit (stage B)
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 27 Apr 2026.
- Individual participant dataSharing planned: No
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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. This study is not recruiting at the moment.
Lindsay Burrage, MD, PhD principal investigator
Baylor College of Medicine
5 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 5 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 16 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: under way, not looking for participants, as of the sponsor's last update on 27 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 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?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Fibrotest (time frame: One measurement made on the 1 day of the study visit (stage A)). The study lists 4 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 27 Apr 2026.