Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

This early-phase trial tests a single intravenous dose of a gene editing therapy called LNP.UCD.ABE in 7 children with severe urea cycle disorders. The therapy aims to correct the genetic defect using a lipid nanoparticle to deliver a base editor. The main goal is to check safety…

This study is testing a drug called glycerol phenylbutyrate in 40 Chinese children with urea cycle disorders, a rare genetic condition that causes dangerous ammonia buildup. The drug aims to help control ammonia levels over 5 years. Researchers will monitor safety and effectivene…

This study is testing a new way to measure how well the urea cycle works in healthy people and in patients with urea cycle disorders (UCDs). Participants receive a safe, non-radioactive tracer, and blood samples are taken over a few hours. The goal is to develop a better tool for…

This study uses a brain imaging technique called functional near-infrared spectroscopy (fNIRS) to observe brain activity in people with urea cycle disorder (UCD) while they perform driving tasks of varying difficulty. Researchers compare these brain patterns to those of healthy v…