AICA-ribosiduria

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 will test a new, non-invasive eye scanner called wide field OCTA in 200 people with various eye diseases, including age-related macular degeneration, diabetic retinopathy, and dry eye. The goal is to see if this device can provide better images of blood vessels in the …

This study will test a new, noninvasive camera called XyCAM CRE that measures blood flow in the back of the eye. Researchers will compare its images with standard eye tests in 350 adults with retinal disorders. The goal is to see if this camera can provide extra information to he…

This study looks back at medical records of 200 people with inherited retinal diseases, like retinitis pigmentosa and Stargardt disease. Researchers will analyze vision tests and eye scans to see how these diseases progress and how genetics affect symptoms. The goal is to find be…

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 …