An observational study in Urea Cycle Disorder, sponsored by Baylor College of Medicine. Completed at 1 site in United States. Open to participants aged 5 Years to 60 Years. Per ClinicalTrials.gov, last updated 2023-02-10.
Sponsored by Baylor College of Medicine · Observational
This is a pilot, cross-sectional study to assess liver stiffness and markers of hepatic injury, function, and fibrosis in patients with urea cycle disorders. This study will be conducted at 3 UCDC sites: Baylor College of Medicine in Houston, Texas, University of California San Francisco (UCSF), San Francisco, California and Seattle Children's Hospital, Seattle,Washington
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 purpose of this study is: 1) To determine whether liver stiffness is higher in individuals with ASS1D, ASLD, and ARG1D as compared to females with OTCD, and to assess liver stiffness in other UCDs (citrin deficiency, NAGSD, CPS1D, and males with OTCD), 2) To test whether markers of hepatocellular injury and function and novel serum biomarker panels for hepatic fibrosis provide evidence of chronic liver disease in individuals with ASS1D, ASLD, and ARG1D as compared to OTCD and to assess these sample markers of hepatocellular injury and function and novel serum biomarker panels for hepatic fibrosis in other UCDs (citrin deficiency, NAGSD, CPS1D, and males with OTCD).
2,081 studies on the registry are indexed under Liver Diseases; 390 are open to participants now.
This study's enrollment of 28 is below the median of 167 across 681 observational studies indexed under Liver Diseases.
Browse Liver Diseases studies →Baylor College of Medicine is the lead sponsor of 734 studies on the registry; 110 are open to participants now.
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Individuals with urea cycle disorders
Exclusion Criteria:
Other: Diagnostic Ultrasound
All individuals will undergo a blood draw for measurement of biomarkers of liver disease and an ultrasound with shear-wave elastography.
Liver Stiffness as Measured by Shear Wave Elastography
Shear wave elastography in m/s is a measure of liver stiffness, a surrogate measure for hepatic fibrosis. Normal liverstiffness is \< 1.35 m/s and abnormal liver stiffness is \>1.35 m/s
Time frame: One measurement made on the day of study visit
Grey Scale Ultrasound Findings
Grey scale ultrasound findings
Time frame: Baseline, once
Fibrotest
Fibrotest is a blood test that is a surrogate measure for hepatic fibrosis. F0 is normal. \>F0 predicts at least minimal fibrosis.
Time frame: Baseline, once
| Milestone | Urea Cycle Disorders |
|---|---|
| Started | 28 |
| Completed | 28 |
| Not completed | 0 |
Shear wave elastography in m/s is a measure of liver stiffness, a surrogate measure for hepatic fibrosis. Normal liverstiffness is \< 1.35 m/s and abnormal liver stiffness is \>1.35 m/s
| Participants | Urea Cycle Disorders |
|---|---|
| Normal Liver Stiffness | 13 |
| Abnormal Liver Stiffness | 14 |
Grey scale ultrasound findings
| Participants | Urea Cycle Disorders |
|---|---|
| Normal hepatic parenchyma on grey scale ultrasound | 15 |
| Abnormal hepatic parenchyma on grey scale ultrasound | 13 |
Fibrotest is a blood test that is a surrogate measure for hepatic fibrosis. F0 is normal. \>F0 predicts at least minimal fibrosis.
| Participants | Urea Cycle Disorders |
|---|---|
| F0 | 19 |
| >F0 | 9 |
Collected over Baseline study visit. Non-serious events are listed at a 0% frequency threshold.
| Group | Deaths | Serious | Other |
|---|---|---|---|
| Urea Cycle Disorders | 0/28 (0%) | 0/28 (0%) | 0/28 (0%) |
| Age, Continuous(years) | Urea Cycle Disorders |
|---|---|
| Mean | 15 (5 to 52) |
| Sex: Female, Male(Participants) | Urea Cycle Disorders |
|---|---|
| Female | 16 |
| Male | 12 |
| Race/Ethnicity, Customized(Participants) | Urea Cycle Disorders |
|---|---|
| White | 13 |
| Native American | 2 |
| Hispanic | 9 |
| African-American | 3 |
| Asian | 1 |
| Region of Enrollment(participants) | Urea Cycle Disorders |
|---|---|
| United States | 28 |
| UCD diagnosis(Participants) | Urea Cycle Disorders |
|---|---|
| OTC Deficiency (Male) | 3 |
| OTC Deficiency (Female) | 7 |
| ASS1 Deficiency | 4 |
| ASL Deficiency | 8 |
| ARG1 Deficiency | 6 |
| BMI(Participants) | Urea Cycle Disorders |
|---|---|
| Underweight | 1 |
| Healthy | 12 |
| Overweight | 5 |
| Obese | 10 |
| History of Hyperammonemia(Participants) | Urea Cycle Disorders |
|---|---|
| Count of participants | 16 |
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Plan to share: No
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Baylor College of Medicine