Assessing liver disease in patients with urea cycle disorders
Noninvasive Biomarkers of Hepatic Fibrosis in Urea Cycle Disorders
Baylor College of Medicine · NCT04612764
This study is testing new ways to check for liver problems in people with urea cycle disorders to see how their liver health varies.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 62 (estimated) |
| Ages | 6 Years to 65 Years |
| Sex | All |
| Sponsor | Baylor College of Medicine (other) |
| Locations | 5 sites (Aurora, Colorado and 4 other locations) |
| Trial ID | NCT04612764 on ClinicalTrials.gov |
What this trial studies
This observational study aims to evaluate the risk of liver fibrosis and hepatic injury in individuals diagnosed with urea cycle disorders (UCDs) using non-invasive methods such as serum biomarkers, Fibroscan, and magnetic resonance elastography (MRE). Conducted across five medical centers, the study will compare the liver health of patients with different types of UCDs, including Ornithine Transcarbamylase Deficiency and others. The goal is to establish a better understanding of liver complications associated with UCDs, which have become more apparent due to improved patient survival rates. By utilizing innovative non-invasive techniques, the study seeks to provide valuable insights for both clinical practice and future research.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals aged 6 to 65 years with a confirmed diagnosis of specific urea cycle disorders.
Not a fit: Patients who have undergone liver transplantation or have certain liver diseases or conditions may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved monitoring and management of liver disease in patients with urea cycle disorders.
How similar studies have performed: While there is ongoing research into non-invasive liver assessment techniques, this specific approach in the context of urea cycle disorders is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Stage A Inclusion Criteria: * Age \> 6 years and \< 65 years * Weight ≥ 11 kg at time of screening * A molecular or biochemical diagnosis of OTCD, ASS1D, ASLD, or ARG1D. Exclusion Criteria: * 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 * 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 Exclusion Criteria * 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
Where this trial is running
Aurora, Colorado and 4 other locations
- Children's Hospital Colorado — Aurora, Colorado, United States (NOT_YET_RECRUITING)
- Children's National Medical Center — Washington, District of Columbia, United States (RECRUITING)
- The Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States (NOT_YET_RECRUITING)
- Baylor College of Medicine — Houston, Texas, United States (RECRUITING)
- Seattle Children's Hospital — Seattle, Washington, United States (NOT_YET_RECRUITING)
Study contacts
- Principal investigator: Lindsay Burrage, MD, PhD — Baylor College of Medicine
- Study coordinator: Saima Ali, MSN
- Email: saima.ali@bcm.edu
- Phone: 832-822-4183
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency, Citrullinemia 1, ARGI Deficiency, ASL Deficiency, Argininosuccinic Aciduria, ASS Deficiency, Hyperargininemia