Urea cycle disorder or inherited hyperammonemia

This study tests whether adding the drug vorinostat to standard care can prevent graft-versus-host disease (GVHD) in children and young adults (ages 1-26) with non-cancerous blood disorders who are getting a bone marrow transplant. GVHD is a serious complication where donor cells…

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 trial will test an artificial intelligence system designed to interpret routine newborn screening tests for inherited metabolic disorders. Researchers will compare the AI's accuracy to standard manual review by trained staff. The study plans to include 200,000 newborns in Ch…

This early-stage trial tests a new robotic surgical method for esophageal cancer that avoids cuts between the ribs, which may cause less chest pain and faster recovery. About 31 adults with stage I to III esophageal cancer will be randomly assigned to either the new approach or s…

This study will look at 225 adults with diabetic retinopathy to find out how many also develop an epiretinal membrane — a thin, scar-like layer on the retina that can blur vision. Researchers will use eye scans to detect the membrane and check for related factors like age, diabet…

This 10-year observational study will follow 10,000 adults with diabetes, metabolic disorders, and related conditions like high blood pressure and fatty liver disease. Researchers will collect routine medical data to identify markers of disease severity and activity. The goal is …