Autoinflammatory syndrome

This Phase 3 trial compares a low-dose combination of prednisone and methotrexate to standard high-dose prednisone for people with active cardiac sarcoidosis. Researchers hope the combo works just as well but causes fewer side effects and improves quality of life. The study plans…

This study looks at how well and how safely the drug Ilaris (canakinumab) works for people with Schnitzler's syndrome, a rare condition that causes hives, fever, joint pain, and fatigue. About 5 participants will receive the drug and be monitored for up to 48 weeks. The goal is t…

This study tests whether baricitinib, a daily pill, is safe and works for children aged 1 to under 18 with systemic juvenile idiopathic arthritis (sJIA), a chronic inflammatory disease. About 58 children will receive either baricitinib or a standard injected drug (tocilizumab) to…

This study tests whether spesolimab, given as an infusion, can help close skin ulcers in adults with pyoderma gangrenosum, a rare inflammatory skin condition. About 90 participants will receive either spesolimab or a placebo, along with corticosteroids. The trial lasts about 1.5 …

This study tests doing two heart procedures at the same time for people with atrial fibrillation. First, doctors use pulsed field energy to fix the heart's rhythm. Then, they implant a small device to close off a part of the heart where clots can form. The goal is to see if this …

This study tests a new medicine called MAS825 for people with Still's disease, a rare inflammatory condition causing fever, rash, and joint pain. About 20 children and adults with active disease will receive the drug to see if it safely controls symptoms. The goal is to improve d…

This study tests a new drug called KPL-387 in 80 people with well-controlled recurrent pericarditis (inflammation around the heart). The goal is to see if patients can safely switch from their current treatments to KPL-387 alone and still prevent flare-ups. The trial will measure…

This study tests an injected drug called KPL-387 in 165 people with recurrent pericarditis, a condition where the sac around the heart becomes inflamed again and again. The goal is to see if KPL-387 can reduce flare-ups and pain better than a placebo. Participants must have sympt…

This study looks at how patients with Familial Mediterranean Fever (FMF) and Still's disease (including systemic juvenile idiopathic arthritis and adult-onset Still's disease) use the drug canakinumab (Ilaris) over the long term. Researchers will track 160 patients across Europe …

This study tests whether the drug CardiolRx can prevent another episode of pericarditis (inflammation around the heart) in people who have had repeated attacks. About 110 adults who have been stable on an IL-1 blocker for at least a year will stop that medication and receive eith…

This phase 2 study tests whether giving emapalumab or a combination of fludarabine and dexamethasone before a stem cell transplant can reduce inflammation and help the donated cells take hold better. The trial involves 39 people with primary immune regulatory disorders or autoinf…

This study tests a new oral medication, upadacitinib, in children aged 1 to 17 with active systemic juvenile idiopathic arthritis (sJIA), a rare and serious form of arthritis that can affect the whole body. About 90 participants will receive either upadacitinib or the standard in…

This study is for children and teens aged 1 to 17 with systemic juvenile idiopathic arthritis (sJIA), a condition that causes joint swelling and fever. Researchers are testing different doses of the drug sarilumab to find the best amount that works and is safe. The study involves…

This study tests an experimental drug called VTX2735 in 50 adults with recurrent pericarditis, a condition where the heart's lining becomes inflamed and painful. The goal is to see if the drug is safe and can reduce pain and inflammation. Participants receive different doses over…

This study tests an experimental drug called XTMAB-16 in adults with pulmonary sarcoidosis, a condition causing lung inflammation. The goal is to see if the drug is safe and can help patients reduce or stop taking steroids, which have serious side effects. About 94 participants w…

This study watches children and adults who are already taking or about to start Ilaris for hereditary periodic fever syndromes or systemic juvenile idiopathic arthritis. Researchers will track side effects and how well the drug controls symptoms over 16 weeks. No new medicine is …

This study tests whether a stem cell transplant from a donor can help people with VEXAS syndrome, a rare autoinflammatory disease. Participants receive donor stem cells after drugs to prepare their bone marrow. The goal is to see if the transplant can reverse symptoms and allow p…

This study is testing the long-term safety and effectiveness of the drug filgotinib in children and adolescents aged 8 to 17 with juvenile idiopathic arthritis. Participants must have already completed a previous filgotinib study and shown improvement. The goal is to see if the d…

This study tests a drug called pacritinib for people with VEXAS syndrome, a rare genetic disease that causes severe inflammation. About 78 adults will receive either the drug or a placebo to see if it controls symptoms and reduces flare-ups. The goal is to find a safe and effecti…

This study compares two medications, firsekibart and anakinra, to see which works better and is safer for people with Adult-Onset Still's disease (AOSD). The trial will enroll 20 adults aged 18 to 75 who have been diagnosed with AOSD. The main goal is to see how many patients ach…

This study compares two steroid-tapering schedules for people with stable sarcoidosis who have been on prednisolone for at least six months. The goal is to see which approach helps more patients cut their dose by at least half without causing a flare-up. Researchers will also mon…

This study tests guselkumab (Tremfya), a drug already used for psoriasis, in 17 adults with pyoderma gangrenosum—a rare disease that leads to painful, hard-to-heal skin ulcers. Participants receive injections every 4 weeks for 28 weeks. Researchers will check if ulcers heal compl…

This early-phase trial is testing an experimental drug called JTE-162 in 5 adults with CAPS, a rare condition that causes fever, rash, and joint pain. Participants take one tablet daily for 2 weeks. Researchers will check if the drug safely reduces inflammation and improves sympt…

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 looks at whether vitamin D supplements can help people with sarcoidosis who have low vitamin D levels. Researchers will give some participants vitamin D2 and others a placebo, then measure changes in lung function and quality of life. The goal is to see if correcting v…

This study is testing a less intense chemotherapy and radiation regimen before a stem cell transplant for children and young adults up to age 55 with non-cancerous blood disorders like immune deficiencies, anemias, and metabolic diseases. The goal is to see if this gentler prepar…

This Phase 2 trial tests OATD-01, an oral drug that blocks a protein called chitinase-1, in 96 people with active pulmonary sarcoidosis. Participants take the drug or a placebo for 12 weeks to see if it reduces lung inflammation measured by PET scans. The goal is to find a new tr…

This phase 2 trial tests the drug momelotinib in 57 people with VEXAS syndrome, a rare inflammatory condition that may also involve a bone marrow disorder called MDS. Participants receive momelotinib daily, and doctors check if symptoms improve and if steroid doses can be lowered…

This study tests whether fecal microbiota transplants (FMT) given as capsules can safely improve symptoms in people newly diagnosed with rheumatoid arthritis, ankylosing spondylitis, psoriatic arthritis, Crohn's disease, or ulcerative colitis. Two hundred participants will receiv…

This study tests if hydroxychloroquine, a drug used for malaria and autoimmune diseases, can help people with sarcoidosis reduce or stop taking steroids. Sarcoidosis causes inflammation, often in the lungs, but this trial focuses on cases affecting the skin, eyes, or bones. 140 a…

This study tests a radioactive tracer called 124I-AT-01 that binds to amyloid clumps in the body. Researchers want to see if PET/CT scans can detect amyloidosis in organs of people with CAPS who developed it from anakinra injections. Thirty adults will be scanned every 6 months f…

This study is testing whether a special PET/CT scan using a tracer called PentixaFor can accurately detect acute inflammation in the heart. It focuses on three conditions: heart transplant rejection, cardiac sarcoidosis, and myocarditis caused by cancer drugs. Researchers will en…

This study explores whether a quick, painless cheek swab can spot protein changes linked to inherited heart conditions that cause sudden cardiac death in young people. Researchers will collect samples from 26 patients with arrhythmic disorders or family members at risk. If the te…

This study tests two different needles used during a lung ultrasound procedure to collect tissue samples from swollen lymph nodes. The goal is to see which needle gives better samples for diagnosing sarcoidosis, a disease that causes inflammation. About 128 adults with suspected …

This study is testing whether a radioactive tracer called Tc 99m tilmanocept, already used in other imaging, can help detect cardiac sarcoidosis—a condition where inflammation forms in the heart. Researchers will give the tracer to 15 adults with confirmed sarcoidosis and take sp…

This study tests a special PET/CT scan that uses a tracer called FAPI-74 to find fibrosis (scar-like tissue) in the body. It includes 45 adults with conditions like head and neck cancer or tuberculosis that can cause fibrosis. The goal is to see how well the scan shows fibrosis, …

This study explores a new blood test that looks for DNA fragments from damaged heart cells to detect active heart inflammation in people with sarcoidosis. Researchers will compare results from 120 participants, including healthy volunteers and those with known heart conditions. I…

This study tests whether a drug called sotagliflozin, combined with a short ketogenic diet, can help suppress normal sugar use by the heart. This would make PET scans clearer for detecting inflammation caused by cardiac sarcoidosis. Forty healthy volunteers will take the drug for…

This study is testing a new imaging technique called full-field optical coherence tomography (FFOCT) to examine small lung biopsy samples taken during bronchoscopy. Researchers want to see if FFOCT can provide results that match standard lab analysis, potentially allowing faster …

This study is looking for a better way to diagnose three serious conditions that can look alike: Still's disease, sepsis, and macrophage activation syndrome. Researchers will measure a specific form of a blood protein called glycosylated ferritin in 60 people suspected of having …

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 a new blood-based test that aims to predict which medication will work best for each person with rheumatic diseases like rheumatoid arthritis or lupus. Researchers will take a blood sample and analyze immune cells to create a personalized treatment profile. …

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 tests whether using a portable oxygen concentrator (a lightweight, battery-powered device) during walking or exercise helps people with interstitial lung disease (ILD) or COPD feel less breathless and be more active in their daily lives. Twenty-four participants will t…

This study tests whether an 8-week virtual Mindfulness-Based Stress Reduction (MBSR) program can reduce fatigue, anxiety, and depression in 100 adults with sarcoidosis. One group takes MBSR; the other joins a monthly virtual support group. Researchers will compare which approach …

This pilot study tests whether semaglutide (Ozempic), a drug used for diabetes and obesity, is safe and tolerable for weight loss in people with advanced lung disease. Eight participants with conditions like COPD or pulmonary fibrosis will take weekly injections for 12 weeks. Res…

This study tests whether etanercept, a drug that blocks inflammation, can reduce pain and disease activity in adults with SAPHO syndrome—a rare condition affecting bones, joints, and skin. Participants must have tried standard treatments like NSAIDs without enough relief. The tri…

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 understand the causes and progression of systemic juvenile idiopathic arthritis (sJIA) and adult-onset Still's disease (AOSD) by observing up to 2,000 participants over time. Researchers will collect medical history, blood samples, and genetic data to identify …

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 is analyzing inflammatory markers in the blood and spinal fluid of 300 people who are being checked for multiple sclerosis (MS). The goal is to see if certain markers can help doctors tell MS apart from other autoimmune diseases that affect the brain and spinal cord. R…

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 tracking 1,500 people with cardiac sarcoidosis—a condition where inflammation affects the heart—to learn how doctors currently diagnose and treat it. Researchers will also test whether corticosteroid therapy improves outcomes. The goal is to create better guidelines…

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 looks at how genes play a role in lung diseases like cystic fibrosis, asthma, and pulmonary fibrosis. Researchers will examine DNA from up to 3,500 people with and without lung disease to find genetic differences. The goal is to better understand what causes these cond…

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 aims to learn how well heart scans (MRI, ultrasound, PET) can detect and predict outcomes in people with suspected or known inflammatory heart diseases. Researchers will follow 5,000 adults for one year to see how often heart involvement is confirmed and how it affects…

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 aims to understand the causes and progression of Common Variable Immunodeficiency (CVID) and related inborn errors of immunity. Researchers will observe up to 500 patients over time using blood tests, imaging, and other exams. The goal is to find better ways to diagnos…

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 is building a national registry of 500 adults with VEXAS syndrome, a rare inflammatory disease. Researchers will collect medical information and biological samples during routine care to learn more about how the disease behaves, what treatments work best, and how to di…

This registry is following 3,000 adults with idiopathic pulmonary fibrosis (IPF) or other chronic fibrosing interstitial lung diseases (ILDs) to understand how these conditions progress over time. Researchers collect information on symptoms, treatments, quality of life, and store…

This study is looking for new genes and blood markers linked to arrhythmogenic cardiomyopathy (AVC), a genetic heart condition that can lead to heart failure and sudden cardiac arrest. Researchers will enroll 1,000 people, including patients with AVC or unexplained cardiac arrest…

This study is testing a special PET scan that uses a tracer called 68Ga-FAPI to look for inflammation and scarring in the hearts of people with a specific type of heart failure (HFpEF). About 35 adults with this condition will get the scan to see how well it works. The goal is to…

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 aims to find the genes and DNA changes that cause cherubism, a rare condition that affects the jaw bones. Researchers will study blood and tissue samples from up to 600 people, including patients and their family members. The long-term goal is to understand the disease…

This study aims to learn more about PFAPA, a condition that causes repeated fevers, sore throats, and mouth sores in children. Researchers will collect blood, saliva, stool, and tonsil tissue from 1,500 people with PFAPA or other tonsil problems. No treatment is given; the goal i…

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 looks at whether a new way of scoring whole-body MRI scans can reliably measure bone inflammation in children with CRMO, a rare condition causing repeated bone pain and swelling. Researchers will compare the MRI scores from different doctors and also check if changes i…

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 looks at 100 adults with fibrosing interstitial lung diseases (a type of lung scarring) to see if things like mold, dust, air pollution, and other home factors make the disease progress faster. Researchers will compare patients whose disease is getting worse to those w…

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 looks at why sarcoidosis affects people differently—some get better, others develop long-term lung damage. Researchers will analyze genes, immune cells, and gut bacteria from 5,000 participants, including healthy volunteers. The goal is to find markers that predict dis…

This study looks at how certain immune cells (monocytes and macrophages) behave in sarcoidosis and tuberculosis. Researchers will compare blood and tissue samples from 100 adults to find patterns that explain why these cells stay overactive in sarcoidosis. The goal is to better u…

This study looks at whether people with CAPS (a rare genetic inflammatory condition) have disrupted circadian rhythms—the body's natural day-night cycle. Researchers will measure melatonin levels and track activity with a watch in 30 participants (patients and healthy household m…

This study is looking at 2,000 people who have early warning signs of blood cancers or bone marrow failure. Researchers use a special genetic test (next generation sequencing) to find changes in cancer-related genes. The goal is to better understand who is at risk and to catch th…

This study will follow 500 adults and children with Still disease, a rare inflammatory condition causing fever, joint pain, and rash. Researchers aim to compare how the disease affects different age groups, identify early markers, and improve care. No new treatments are being tes…

This study is building a large registry and biorepository of 5,000 adults with various rheumatic diseases like rheumatoid arthritis, lupus, and scleroderma. Researchers at Yale University will collect medical data and biological samples over time to better understand these condit…

This study uses a special type of MRI (called 129Xe gas exchange MRI) to take detailed pictures of how the lungs and heart work together. Researchers want to understand how these images change after treatments like blood transfusions or oxygen therapy. The study involves 125 adul…

This study looks at how immune cells behave in people with lung cancer, sarcoidosis, and COPD. Researchers will collect blood and tissue samples from 425 participants to analyze immune function. No experimental treatments are given. The goal is to understand why some patients don…

This study will follow 150 adults with systemic granulomatosis (including sarcoidosis) for up to 10 years. Researchers will track how the disease changes over time and collect blood and urine samples to build a biological database. The goal is to better understand the disease and…

This study reviews past medical records of 12 people with Familial Mediterranean Fever to see how well different drugs control symptoms in everyday practice. Researchers will measure symptom improvement using patient ratings. The goal is to understand which treatments work best o…

This study is testing advanced heart MRI scans to better diagnose and predict risks for people with rare heart muscle diseases. Researchers will scan 1000 participants to see if these new imaging methods can identify conditions like Fabry disease and cardiac amyloidosis more accu…

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 looks at heart tissue samples from 216 adults who already need a biopsy as part of their care. Researchers want to find unique molecular patterns in different heart conditions, including after a heart transplant. The goal is to improve how these diseases are diagnosed …

This study is creating a large database to collect information on people with rare diseases like amyloidosis, sarcoidosis, and Gaucher disease. Researchers will track patients' health over time, including their symptoms, treatments, and outcomes. The goal is to improve diagnosis …

This study is developing prediction models to forecast lung function changes in people with sarcoidosis, a condition that causes inflammation in the lungs. Researchers will collect clinical data and blood markers from 200 adults during routine clinic visits. The goal is to create…

This study aims to uncover the genetic and immune factors behind SAPHO syndrome, a rare chronic condition causing bone inflammation and skin issues. Researchers will collect DNA and cells from 100 adults diagnosed with SAPHO to compare their genetic makeup with the general popula…

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 is testing whether a special ultrasound technique called VExUS can help doctors manage fluids better during chest surgery. The goal is to see if it lowers the chance of lung and kidney problems after surgery. About 230 adults having video-assisted lung surgery will tak…

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 is creating a registry and biobank for people with interstitial lung diseases (ILD), including sarcoidosis, idiopathic pulmonary fibrosis, and hypersensitivity pneumonitis. Researchers will collect medical data and biological samples from up to 1,000 participants to su…

This registry study aims to collect information from over 6,800 people with sarcoidosis about their symptoms, diagnosis, treatments, and daily life. Participants complete surveys and can share their electronic health records. The goal is to create a detailed picture of sarcoidosi…

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…