Aicardi-Goutieres syndrome 4

This study looked at whether the HPV vaccine works in girls aged 9 to 17 who are taking medicines that weaken their immune system, such as after an organ transplant or for diseases like lupus. The goal was to see if their bodies produce enough antibodies to protect against HPV. T…

This study tests a new intravenous immunoglobulin (IGIV) called PlasmaCap IG in adults and children aged 2 to 70 with primary immune deficiency diseases (PIDD). Participants receive regular infusions of the therapy for 12 months. The goal is to see if it prevents serious bacteria…

This study tested a program to help veterans with heart disease or rheumatic conditions take their medications as prescribed. Over 5,000 participants received reminders via text or phone calls, with extra support if needed. The goal was to improve medication adherence and reduce …

This study checked the long-term safety of TAK-771 in 15 Japanese patients with primary immunodeficiency disease (PID). Participants received TAK-771 injections for up to 3 years. The main goal was to monitor side effects and immune reactions. The study is now complete.

This study tested a new intravenous immunoglobulin (IVIg) treatment called Kedrion IVIg 10% in 47 people with primary immunodeficiency, a condition where the immune system cannot make enough antibodies. The goal was to see if regular infusions of this antibody therapy could preve…

This study tested a new medicine called TAK-881, a concentrated antibody solution given under the skin, in 65 people with primary immunodeficiency diseases (PIDD). The goal was to see how well the body absorbs it and if it is safe compared to an existing treatment (HYQVIA). Parti…

This study tested two different chemotherapy drugs (Treosulfan and Busulfan) given before a stem cell transplant in 106 children with serious non-cancer diseases like immune disorders, metabolic diseases, blood disorders, and bone marrow failure. The goal was to see which drug le…

This study looked at how well flu vaccines (seasonal and H1N1) work in 234 adults with autoimmune diseases like lupus or vasculitis, some of whom were on steroids or immunosuppressants. Researchers measured antibody levels three weeks after each shot to see if the vaccine provide…

Researchers tested an artificial intelligence program that analyzes retinal images to diagnose several nerve and brain conditions, such as optic neuropathy and brain tumors. The study used data from 693 patients with confirmed diagnoses. The goal is to create a fast triage tool f…

This study looked at how stretchy the skin and blood vessels are in people with Williams syndrome, a genetic condition that can cause heart problems. Researchers measured skin and pulse speed in 43 participants aged 5 to 70. The goal was to learn how these tissues change over tim…

This completed study looked at how the social networks of caregivers affect their stress and health when caring for someone with an inherited disease. Researchers surveyed over 680 participants, including family members and formal caregivers, to understand caregiving burden and s…

This study looked at 719 people, including patients with autoimmune connective tissue diseases like myositis, their blood relatives, and healthy volunteers. Researchers collected blood samples and medical histories to find genetic and environmental factors that may trigger these …

This completed study looked at how the COVID-19 pandemic and social distancing impacted the mental health of 259 adults with chronic inflammatory rheumatism (like rheumatoid arthritis or ankylosing spondylitis). Researchers used questionnaires to measure stress, depression, anxie…

This study tested a smartwatch and mobile app platform called Pedi@Ctivity to track physical activity in 362 adolescents, including those with chronic rheumatic disease. The goal was to collect big data and use AI to analyze activity patterns and create personalized exercise prog…

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 analyzed DNA from 9 patients with primary immune deficiencies whose genetic cause was unknown. Researchers used whole exome or genome sequencing to look for new mutations that might explain their condition. The goal was to identify new inborn errors of immunity, which …

This study looked for hidden immune system problems in adults who get frequent or severe bacterial infections, like pneumonia or meningitis. Researchers screened 120 adults aged 18-65 to see how many had an undiagnosed primary immunodeficiency. The goal was to find out if these c…

This study looked at over 2,400 people with rheumatic diseases who take methotrexate. Researchers compared those who had standard lab monitoring to those who had fewer blood tests. The goal was to see if reduced monitoring is as safe in terms of preventing organ damage or death.

This study tested whether home automation and remote monitoring can help elderly people (65+) with multiple chronic conditions live safely at home. Over 500 participants had their homes equipped with sensors that tracked health signs and sent alerts to doctors. The main goal was …

This study looked at 99 women with primary immune deficiency to learn more about their pregnancies and birth outcomes. Researchers tracked infections during pregnancy and after birth, as well as how well contraception worked. The goal is to help doctors give better advice to wome…

This study aimed to translate and validate an Italian version of a tool that helps speech therapists assess swallowing difficulties (dysphagia) in people with neurodegenerative diseases like Parkinson's or ALS. Researchers tested the tool on 101 adults with such conditions to ens…

This completed study looked at anxiety about COVID-19 in 200 adults with rheumatic diseases who were already taking either biologic or conventional disease-modifying drugs. Researchers called participants and asked them to fill out a questionnaire about their coronavirus-related …

This study looked at whether video or phone visits (tele-rheumatology) work as well as in-person visits for people with rheumatic diseases like arthritis. Over 650 adults took part, and researchers measured how satisfied they were with each type of visit and which they preferred.…

This completed study looked at how different types of brain damage—from strokes, tumors, infections, or degenerative diseases—affect thinking and memory. Researchers used brain scans (MRI) and cognitive tests in 346 patients and healthy volunteers to map which brain areas are res…

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 collected blood, saliva, stool, urine, and skin samples from 19 people with unknown or poorly understood immune system problems. The goal was to learn how different parts of the immune system work together. No treatments or drugs were tested. Participants were followed…

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…

This study looked at whether epidural or spinal anesthesia during childbirth leads to more infections in women with primary immunodeficiencies (weak immune systems). Researchers tracked 30 women from a national registry for 28 days after delivery to see if they developed serious …

This study tested a simple approach where doctors review pharmacy refill data during clinic visits and talk with patients about their medications. The goal was to see if this method is practical and acceptable for improving medication adherence in people with chronic rheumatic di…

This completed study looked at 32 people with known genetic changes in connective tissue genes to better understand how these changes affect overall health. Participants underwent a range of medical tests and exams over 3-5 days. The goal was to gather information, not to test a …