Urea cycle disorder

This study tested a weekly injection of pegzilarginase (Loargys) in 3 infants under 24 months old with arginase 1 deficiency, a rare genetic disorder that causes harmful buildup of arginine. The goal was to see if the drug is safe and can lower arginine levels in the blood. The t…

This study tested whether taking a daily arginine supplement (Bioarginine) for 6 weeks can improve breathing and daily activities in people with COPD. 153 participants were randomly assigned to receive the supplement or a placebo on top of their usual inhaled medications. The goa…

This study looked at how nerve cells in the eye are lost in people with multiple sclerosis (MS) even when there is no active inflammation. Researchers followed 64 adults with relapsing-remitting MS who were already part of a larger study. By using special eye scans over time, the…

This completed study from Aarhus University looked at how the urea cycle works in 10 people with end-stage kidney disease on dialysis. Participants received a 3-hour alanine infusion, and researchers measured urea production before and after dialysis. The goal was to understand u…

This study tested whether a computer technique called radiomics can help analyze eye scans from people with vitelliform lesions, which are yellow deposits under the retina that can change over time. Researchers looked at 50 participants' OCT images to see if radiomics could disti…