Liver Disease in Urea Cycle Disorders

Launched by BAYLOR COLLEGE OF MEDICINE · Oct 27, 2020

Keywords

ClinConnect Summary

This clinical trial is investigating how liver disease develops in people with urea cycle disorders (UCDs), which are conditions that affect the body's ability to process proteins. The researchers want to understand the risk of liver damage by using tests that measure liver health, including blood tests and special imaging techniques. The study is taking place at five different hospitals across the United States, and they are currently looking for participants to join.

To be eligible for this study, participants need to be between the ages of 6 and 65 and weigh at least 11 kg. They must have a confirmed diagnosis of specific UCDs. However, individuals who have had a liver transplant, recent severe health episodes, or certain other liver conditions will not be able to participate. Those who join can expect to undergo various tests to assess their liver health, and the study aims to gather important information that could help in the understanding and treatment of liver issues related to UCDs.

Gender

ALL

Eligibility 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