Autoinflammatory syndrome of childhood

This phase 2 trial tested the drug crizanlizumab in 18 people with RVCL, a rare and fatal genetic condition that damages small blood vessels in the brain and eyes. There is currently no treatment for RVCL. The study measured changes in brain lesions on MRI scans to see if the dru…

This phase 2 trial tested baricitinib (Olumiant), a drug used for rheumatoid arthritis, in 54 people with Aicardi Goutières Syndrome (AGS), a rare genetic disorder that causes brain inflammation and developmental problems. The goal was to see if the drug could stabilize or improv…

This small pilot study tested whether drugs normally used for HIV could help children with Aicardi-Goutières syndrome (AGS), a rare genetic disorder that causes severe brain inflammation. The trial gave 11 children a combination of three reverse transcriptase inhibitors to see if…

This study follows up to 5,000 people with autoinflammatory diseases (like NOMID, CANDLE, and juvenile dermatomyositis) and their healthy relatives. Researchers will collect medical history, blood samples, and imaging over 2-5 day visits to learn how these diseases work and find …

This study looked at over 13,000 people with chronic inflammatory rheumatism or autoimmune diseases who had or were suspected to have COVID-19. Researchers tracked how many developed severe COVID-19 requiring intensive care or leading to death. They also examined risk factors lik…

This study tested whether using an indoor air purifier changes health measures like heart rate, sleep, and oxygen levels. 42 healthy adults wore Apple Watches while using a real or fake (sham) air purifier at home. The goal was to see if cleaner air makes a short-term difference …

This study measured two newer blood markers (calprotectin and serum amyloid protein) alongside standard tests in 20 children with juvenile arthritis and related conditions. The goal was to see if these markers could better track disease flare-ups in everyday clinic visits. The st…

This study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…