Mevalonate kinase 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 study tests a dietary supplement called Cardiol Forte in 50 adults with mildly high cholesterol but low overall heart risk. Participants will take either the supplement or a placebo for 8 weeks, then everyone gets the supplement for another 8 weeks. The goal is to see if it …

This study tests whether temporarily stopping methotrexate for 2 weeks after receiving a pneumonia vaccine (PCV20) helps the vaccine work better in adults with autoimmune rheumatic diseases like rheumatoid arthritis or lupus. About 192 participants with stable, low disease activi…

This study looks at two substances in the blood, IL-18 and IL-18BP, to see if they can help doctors tell apart different causes of fever in children. Researchers will measure these levels in 9 children with conditions like juvenile arthritis, autoinflammatory diseases, or serious…

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 measure harmful molecules called AGEs in 300 people with various rheumatic diseases (like rheumatoid arthritis and ankylosing spondylitis) and compare them to healthy volunteers. AGEs build up over time and can cause inflammation. Researchers will use a non-invasi…

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 aims to better understand rare autoinflammatory diseases by developing blood tests that measure inflammation markers. Researchers will analyze blood samples from 60 adults and children with these conditions. The goal is to identify specific inflammation pathways, which…