Not provided
Not provided
| ID | Type | Description | Link |
|---|---|---|---|
| UCDC 5118 | Other Identifier | Urea Cycle Disorders Consortium |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Class |
|---|---|
| Seattle Children's Hospital | OTHER |
| University of California, San Francisco | OTHER |
Not provided
Not provided
Not provided
Not provided
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).
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Urea Cycle Disorders |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Diagnostic Ultrasound | Other | All individuals will undergo a blood draw for measurement of biomarkers of liver disease and an ultrasound with shear-wave elastography. |
|
| Measure | Description | Time Frame |
|---|---|---|
| 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 | One measurement made on the day of study visit |
| Grey Scale Ultrasound Findings | Grey scale ultrasound findings | Baseline, once |
| Measure | Description | Time Frame |
|---|---|---|
| Fibrotest | Fibrotest is a blood test that is a surrogate measure for hepatic fibrosis. F0 is normal. >F0 predicts at least minimal fibrosis. | Baseline, once |
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Individuals with urea cycle disorders
Not provided
Not provided
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Baylor College of Medicine | Houston | Texas | 77030 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 33846069 | Derived | Nagamani SCS, Ali S, Izem R, Schady D, Masand P, Shneider BL, Leung DH, Burrage LC. Biomarkers for liver disease in urea cycle disorders. Mol Genet Metab. 2021 Jun;133(2):148-156. doi: 10.1016/j.ymgme.2021.04.001. Epub 2021 Apr 8. | |
| 31990680 | Derived | Burrage LC, Madan S, Li X, Ali S, Mohammad M, Stroup BM, Jiang MM, Cela R, Bertin T, Jin Z, Dai J, Guffey D, Finegold M; Members of the Urea Cycle Disorders Consortium (UCDC); Nagamani S, Minard CG, Marini J, Masand P, Schady D, Shneider BL, Leung DH, Bali D, Lee B. Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency. JCI Insight. 2020 Feb 27;5(4):e132342. doi: 10.1172/jci.insight.132342. |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| ID | Title | Description |
|---|---|---|
| FG000 | Urea Cycle Disorders | Diagnostic Ultrasound: All individuals will undergo a blood draw for measurement of biomarkers of liver disease and an ultrasound with shear-wave elastography. |
| Title | Milestones | Reasons Not Completed | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
|
Not provided
Not provided
| ID | Title | Description |
|---|---|---|
| BG000 | Urea Cycle Disorders | Diagnostic Ultrasound: All individuals will undergo a blood draw for measurement of biomarkers of liver disease and an ultrasound with shear-wave elastography. |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Continuous | Mean |
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | 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 | The data for this outcome was reliable for only 27 participants. | Posted | Count of Participants | Participants | One measurement made on the day of study visit |
|
|
Baseline study visit
Not provided
Not provided
| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Urea Cycle Disorders | Diagnostic Ultrasound: All individuals will undergo a blood draw for measurement of biomarkers of liver disease and an ultrasound with shear-wave elastography. |
Not provided
Not provided
Not provided
| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Dr. Lindsay Burrage | Baylor College of Medicine | 832-822-4280 | burrage@bcm.edu |
Not provided
| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| Prot | Yes | No | No | Study Protocol | Feb 20, 2018 | May 12, 2022 | Prot_000.pdf |
| SAP | No | Yes | No | Statistical Analysis Plan | May 11, 2022 | Feb 8, 2023 | SAP_001.pdf |
Not provided
| ID | Term |
|---|---|
| D056806 | Urea Cycle Disorders, Inborn |
| ID | Term |
|---|---|
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
Not provided
Not provided
| ID | Term |
|---|---|
| D019220 | High-Energy Shock Waves |
| ID | Term |
|---|---|
| D000069453 | Ultrasonic Waves |
| D013016 | Sound |
| D011840 | Radiation, Nonionizing |
| D011827 | Radiation |
Not provided
Not provided
Not provided
Not provided
Not provided
Blood
| years |
|
| Sex: Female, Male | Count of Participants | Participants |
|
| Race/Ethnicity, Customized | Count of Participants | Participants |
|
| Region of Enrollment | Number | participants |
|
| UCD diagnosis | Count of Participants | Participants |
|
| BMI | Count of Participants | Participants |
|
| History of Hyperammonemia | Count of Participants | Participants |
|
| Participants |
|
|
| Primary | Grey Scale Ultrasound Findings | Grey scale ultrasound findings | Posted | Count of Participants | Participants | Baseline, once |
|
|
|
| Secondary | Fibrotest | Fibrotest is a blood test that is a surrogate measure for hepatic fibrosis. F0 is normal. >F0 predicts at least minimal fibrosis. | Posted | Count of Participants | Participants | Baseline, once |
|
|
|
| 0 |
| 28 |
| 0 |
| 28 |
| 0 |
| 28 |
Not provided
Not provided
| D009422 | Nervous System Diseases |
| D000592 | Amino Acid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D055585 |
| Physical Phenomena |