Type 1 interferonopathy 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 tests a new skin test (C-TST) to find hidden tuberculosis (TB) infection in people with rheumatic diseases like rheumatoid arthritis who are about to start powerful medications called biologics. These drugs can reactivate dormant TB, so accurate screening is critical. …

This study is testing whether the shingles vaccine (RZV) works and is safe for adults with autoimmune rheumatic diseases like rheumatoid arthritis or lupus who are taking immune-suppressing drugs. Two hundred participants will receive two doses of the vaccine. Researchers will me…

This study looks at how well the shingles vaccine works in people with weakened immune systems, such as those with cancer or autoimmune diseases. Researchers will measure immune responses and track side effects in 300 adults. The goal is to see if the vaccine can effectively prev…

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 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 aims to learn more about the causes of rheumatic diseases—conditions that cause joint pain, stiffness, and swelling—and why they often affect minority groups more severely. Researchers will observe up to 7,500 adults with known or suspected rheumatic disease, providing…

This study is collecting joint fluid and tissue samples from 50 adults with inflammatory or non-inflammatory bone and joint diseases. Researchers will use both standard and advanced lab techniques to find new biomarkers that could help diagnose rheumatic diseases more accurately …

This study follows 4,000 people with interstitial lung disease (including conditions like pulmonary fibrosis and sarcoidosis) to understand how the disease naturally changes over time. Researchers will collect medical data and blood samples, and compare them to a healthy control …

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 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 follows 500 children and adults with rare genetic disorders called type I interferonopathies, which cause severe inflammation and neurological problems. Researchers will track how the disease progresses over time and look for biological markers to improve diagnosis and…

This study looks at young adults with chronic inflammatory rheumatic diseases who are moving from pediatric to adult healthcare. Researchers want to see if a structured program that includes education workshops and joint doctor visits helps patients manage their own care better. …

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 developing a patient-reported outcome measure (PROM) to assess how steroids affect the quality of life of children and young people with rheumatic conditions. Researchers will hold focus groups and interviews with 70 participants and their families to create and tes…

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 is an online survey for 1,000 adults diagnosed with a rheumatic or musculoskeletal disease living in a EULAR country. Participants will answer periodic questionnaires about their healthcare, social life, and work. The goal is to gather real-world data to help researche…

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 observational study follows up to 20,000 children and young adults with pediatric-onset rheumatic diseases, such as juvenile idiopathic arthritis. Researchers collect data on treatments, safety, and long-term outcomes to better understand these conditions. The registry does …

This study will examine chest CT scans from 500 adults with rheumatoid arthritis, connective tissue diseases, or idiopathic pulmonary fibrosis to better understand lung disease patterns. Researchers want to see which scan features are most common in rheumatoid arthritis-related i…

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…