Autoinflammatory syndrome of childhood

This early-stage trial tests a new medicine called IMSB301 in people with rare diseases where the immune system attacks the body. The study includes up to 6 participants aged 12 and older. The main goal is to check if the drug is safe and how it behaves in the body.

This study aims to learn more about the genetics and natural history of autoinflammatory diseases, which cause repeated fevers and inflammation. Researchers will study up to 5,000 people, including patients, their relatives, and healthy volunteers. Participants provide blood and …

This study will analyze DNA from up to 20,000 people, including those with immune disorders and their relatives, to find genetic variants linked to conditions like atopy, autoimmunity, and primary immunodeficiency. Researchers will also study how best to return genetic results to…

This study aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…

This study investigates whether gut bacteria and the chemicals they produce influence inflammation in people with autoinflammatory diseases such as FMF, CAPS, and MKD. Researchers will analyze stool and blood samples from 300 patients to measure gut-derived metabolites and assess…

This study aims to better understand VEXAS syndrome and other autoinflammatory conditions by analyzing participants' DNA from blood, saliva, or skin samples. Researchers hope to discover new genetic variants that cause or contribute to these diseases. The study enrolls people of …

This study is looking at 50 children and adults with rare autoinflammatory diseases—conditions where the immune system causes inflammation without a clear reason. Researchers want to find what leads to a faster diagnosis, what factors are linked to these diseases, and which treat…

This study is for people with certain autoinflammatory diseases (like NOMID, DIRA, CANDLE, SAVI, and others) and their healthy relatives. Researchers want to learn more about what causes these diseases and how they affect the body over time. Participants will have medical tests a…

This study aims to create a large collection of blood samples and medical information from 800 people with autoimmune or inflammatory skin diseases. Researchers will use these samples to find new biomarkers and better understand what causes these conditions. The goal is to help d…

This study is looking for new genes and biological markers that cause systemic autoinflammatory diseases (SAIDs), a group of rare conditions that cause repeated fevers and inflammation. Researchers will analyze the DNA and blood of 300 patients to find disease-causing mutations a…

This study is not a treatment trial. It aims to collect blood samples from 400 children and their relatives who have rare autoimmune or autoinflammatory diseases (like lupus or juvenile arthritis). Researchers will analyze the samples to find genetic mutations that cause these co…

This study aims to learn more about rare genetic diseases that affect both the immune system and the nervous system. Researchers will collect medical information and samples from 1,000 participants, including patients, their relatives, and healthy volunteers. The goal is to bette…

This study aims to learn how the binding of RNA with DNA (called R-loops) is linked to amyotrophic lateral sclerosis type 4 (ALS4) and other inherited neurological disorders. Researchers will observe up to 330 people aged 5 and older, including those with ALS4, related conditions…

This study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…

This study looks at people with autoinflammatory diseases or AA amyloidosis who have genetic changes that are hard to interpret. Researchers want to understand if these changes actually cause the disease. The goal is to improve diagnosis and knowledge, not to test a new treatment…