Clin2
NCT04908319Possibly a fitRecruiting

Studying liver tissue in urea cycle disorders

Urea Cycle DisorderOrnithine Transcarbamylase DeficiencyCitrullinemia 1ARGI DeficiencyASL DeficiencyArgininosuccinic AciduriaASS DeficiencyHyperargininemia

Part of Brain & nervous system, Digestive system, Genetic & congenital, Hormones & metabolism clinical trials.

This study looks at liver tissue (under a microscope) in people with urea cycle disorders to better understand liver changes from the condition. It may help clinicians learn what to watch for and how to manage liver health, especially around liver biopsy or transplant.

Summary written for real people, not researchers, by Clin2.

Phase
N/A
Enrollment
70 people
Ages
Any age
Study type
Observational

Who can take part

  • You have a confirmed or strongly suspected urea cycle disorder (confirmed by enzyme tests, DNA testing, or blood/urine metabolite tests).
  • You have had a liver transplant and/or liver biopsy in the past, or you have one planned.
  • You can provide access to the biopsy or transplant tissue and the pathology report (microscope results).
  • The study team can obtain the pathology report and the actual tissue samples/slides for review.
  • Your liver disease is not due to another known cause such as chronic viral hepatitis, autoimmune liver disease, short gut/small bowel syndrome, alcohol-related liver disease, or special nutrition-related liver injury.

View the official record on ClinicalTrials.gov

Quick eligibility check

Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.

Similar studies

Other trials that look related to this one.

NCT04602325Recruiting
Blood and brain injury biomarker study for inherited metabolic disorders

This trial studies blood and other measurable signs (biomarkers) that may reflect brain injury after certain inherited metabolic conditions. Results may help doctors better detect and understand brain effects from these illnesses, especially episodes that affect the brain.

Washington D.C., District of Columbia
NCT07773246Not yet recruiting· Phase 1/Phase 2
Study of KRRO-121 for healthy people and patients with urea cycle disorders

This study tests a new medicine called KRRO-121 in healthy people first, and then in patients with urea cycle disorders, to see if it is safe and how well it works. The goal is to find a new way to manage this condition.

Melbourne, Victoria
NCT07701694Recruiting
Driving study for people with urea cycle disorders

This study evaluates how people with urea cycle disorders perform during a driving task. It may help researchers understand if the condition affects driving ability.

Memphis, Tennessee
NCT02935283Recruiting
MRI brain and thinking tests in urea cycle disorders

This study uses MRI scans and memory/thinking tests to understand brain effects of urea cycle disorders, like ornithine transcarbamylase deficiency (OTCD) and argininosuccinate (ASSD/ASLD). It may help researchers understand how brain function changes during and between metabolic crises.

Washington D.C., District of Columbia
NCT07667387Recruiting· Phase 1/Phase 2
Base editing study for severe urea cycle disorders

This trial tests a new medicine called LNP.UCD.ABE that aims to fix a specific genetic change causing a severe urea cycle disorder. It uses a technique called base editing to correct the gene mutation, which may help your body break down ammonia better.

Philadelphia, Pennsylvania
NCT03409003Recruiting
Carbaglu monitoring study for suspected NAGS deficiency

This study follows people who have (or might have) NAGS deficiency and who are taking Carbaglu to treat it. The goal is to better track safety and health outcomes over time.

Washington D.C., District of Columbia

Hear when a new Ornithine Transcarbamylase Deficiency trial opens

We’ll email you when one opens — at most once a week, no account needed, unsubscribe anytime.