Autosomal recessive hyperinsulinism due to SUR1 deficiency

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 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 study aims to detect and measure microplastics in pancreas tissue from 10 patients having pancreatic surgery. Researchers will also check fat tissue and blood samples. The goal is to see if microplastics are present and whether they might be linked to metabolic problems or c…

This study aims to create an artificial intelligence (AI) system that can combine medical images (like CT and MRI scans) with patient records and lab results to help doctors more accurately diagnose diseases of the liver, gallbladder, and pancreas. The researchers will use data f…

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 …

This study will look at 150 infants and children aged 1 month to 4 years who are admitted to a hospital gastroenterology unit with a gastrointestinal disease. The goal is to find out how common electrolyte disturbances (like low sodium or potassium) are in these children. By meas…