Liver Disease in Urea Cycle Disorders
Running, not enrolling
Conditions studied: Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency, Citrullinemia 1, ARGI Deficiency, ASL Deficiency, Argininosuccinic Aciduria, ASS Deficiency, Hyperargininemia
In brief
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.
Key facts
- Study ID
- NCT04612764
- Run by
- Baylor College of Medicine
- People needed
- 62
- Starts
- 2021-11-04
- Expected to finish
- 2026-12-31
- Last updated by the study team
- 2026-04-27
Who can join
Age: 6 and older, up to 65. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- Age > 6 years and < 65 years
- Weight ≥ 11 kg at time of screening
- A molecular or biochemical diagnosis of OTCD, ASS1D, ASLD, or ARG1D.
You may not qualify if…
- 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 it is running
- Children's Hospital Colorado — Aurora, Colorado, United States
- Children's National Medical Center — Washington D.C., District of Columbia, United States
- The Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States
- Baylor College of Medicine — Houston, Texas, United States
- Seattle Children's Hospital — Seattle, Washington, United States
Full record on ClinicalTrials.gov
Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.