Inborn error of immunity

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 looked at how well the Pfizer mRNA vaccine triggers an immune response in people with weakened immune systems compared to healthy individuals. About 539 adults received two doses of the vaccine, and researchers measured antibody levels and side effects. The goal was to…

This study tested an extra dose of the HIPRA COVID-19 vaccine in 241 adults with conditions like HIV, kidney disease, or autoimmune disorders that weaken the immune system. The goal was to see if the booster raises antibody levels against virus variants and remains safe. Research…

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 Phase 3 trial tested the drug blinatumomab in 111 children with high-risk relapsed B-precursor acute lymphoblastic leukemia (ALL). Blinatumomab is an immunotherapy that helps the body's immune cells attack cancer cells. The study compared blinatumomab to standard chemotherap…

This study tested two drugs, plerixafor and G-CSF, in 20 people with WHIM syndrome, a rare genetic condition that causes frequent infections and warts. Participants received each drug for a year and tracked their infections. The goal was to see which drug better reduced infection…

This early-phase study tested the safety of rituximab, a drug that targets faulty white blood cells, in 7 adults with rare immune diseases like pulmonary alveolar proteinosis and severe candidiasis. Participants received several doses over 6 months and were monitored for 18 month…

This study tested whether regular infusions of Panzyga (a concentrated antibody solution from donated blood) could prevent serious infections in people with chronic lymphocytic leukemia (CLL) who also have low antibody levels. The trial included 247 adults with CLL who were recei…

This Phase 3 trial tested a drug called efzofitimod in 268 adults with pulmonary sarcoidosis, a condition that causes lung inflammation. Participants received either the drug or a placebo every 4 weeks for 48 weeks. The main goal was to see if the drug could help people safely re…

This study tested a new oral medication called iptacopan in 34 adults with a rare disease called atypical hemolytic uremic syndrome (aHUS), which causes blood clots, low platelets, and kidney damage. The goal was to see if the drug could improve blood counts and kidney function w…

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 the drug tofacitinib (Xeljanz) in 10 adults with chronic granulomatous disease (CGD) who had ongoing inflammation in the gut, skin, or lungs. Participants took the pill daily for 3 months to see if it was safe and could help control symptoms. The goal was to fin…

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 combination of three drugs (DPX-Survivac, low-dose cyclophosphamide, and pembrolizumab) in 25 adults with diffuse large B-cell lymphoma that had come back or not responded to previous treatments. The goal was to see if the immune system could be boosted to shr…

This Phase 2 trial tested whether Humira (adalimumab), a drug used for arthritis, can help people with Netherton syndrome, a rare genetic skin condition that causes severe inflammation, itching, and pain. Eleven patients received six injections over three months, followed by thre…

This study tested a drug called alemtuzumab (Campath) as a first treatment for children with hemophagocytic lymphohistiocytosis (HLH), a rare and life-threatening immune disorder. The goal was to see if it could help children survive until they could receive a stem cell transplan…

This study tested the drug emapalumab (Gamifant) in 13 Chinese patients with primary hemophagocytic lymphohistiocytosis (HLH), a rare and severe immune disorder. The goal was to see if the drug is safe and helps control the disease before a stem cell transplant. Researchers measu…

This study tested whether a shot under the skin (subcutaneous) works as well as an IV drip for the drug isatuximab in people with newly diagnosed multiple myeloma who are eligible for a stem cell transplant. All participants also received standard chemotherapy. The goal was to se…

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 whether specially treated donor white blood cells could help treat a type of lymph cancer that sometimes occurs after an organ transplant. The cancer is linked to the Epstein-Barr virus. Fifty transplant recipients took part. The goal was to see if adding these …

This study tested a drug called elranatamab in 39 Chinese patients with multiple myeloma that had stopped responding to at least three prior treatments. The drug works by helping the immune system attack cancer cells. The goal was to see if it could shrink tumors and control the …

This study looked at how safe and effective a hepatitis A vaccine is for people with HIV, aged 1 to 50. About 392 participants received two vaccine doses six months apart. Researchers checked their blood for antibodies and tracked any side effects for a month after each dose. The…

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 early study tested a cream called SXR1096 on 9 people with Netherton syndrome, a rare inflammatory skin disease. The cream aims to block certain enzymes that cause skin problems. Participants applied the cream and a placebo to different skin areas for one month to check safe…

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 tested the drug eculizumab in 25 children and adults in China with a rare kidney condition called atypical hemolytic uremic syndrome (aHUS). The goal was to see if the drug could stop blood clots and improve kidney function. All participants received eculizumab intrave…

This study tested an oral medication called deucrictibant for quickly treating attacks of hereditary angioedema (HAE), a condition causing sudden, painful swelling. The trial involved 134 adolescents and adults with HAE types 1, 2, or 3. Participants took either the drug or a pla…

This completed trial tested whether natural supplements like omega-3, black seed oil, Indian costus, and quinine could boost the immune system of 150 COVID-19 patients. Participants had mild to moderate symptoms and were monitored for recovery time, fever, lung inflammation, and …

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 tested a combination of two immune-targeting drugs, secukinumab and dupilumab, in 15 children with severe Netherton syndrome, a rare genetic skin disorder. The goal was to see if the treatment could improve survival and control the disease. The children received weight…

This study tested whether analyzing proteins from kidney biopsy and urine samples can improve the diagnosis of microvascular inflammation, a key sign of antibody-mediated rejection in kidney transplant recipients. Researchers used mass spectrometry to find protein signatures in 1…

This study tested whether watching virtual reality or a tablet video can reduce pain and fear in children aged 4-11 with primary immunodeficiency during the needle stick for their IVIG treatment. 31 children participated, and researchers measured their pain, fear, and vital signs…

This study tested a drug called MT-7117 in 184 people aged 12 to 75 with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), rare conditions that cause severe pain from sunlight. The goal was to see if the drug could delay the first signs of sun sensitivity (bur…

This study tested an oral medication called deucrictibant for quickly relieving swelling and pain attacks in people with hereditary angioedema (HAE) types I and II. 74 adults received either one of three doses of the drug or a placebo during an attack. The main goal was to see if…

This study tested whether a liquid diet called Neocate Splash could change gut bacteria and ease stomach symptoms in people with chronic granulomatous disease (CGD) and inflammatory bowel disease (IBD). Three participants followed the diet for up to 4 weeks, with hospital stays a…

This study looked at 137 people with Chronic Granulomatous Disease (CGD), a rare immune disorder. It compared those who received a stem cell transplant with those who got standard care. The goal was to see which patients benefit most from transplant and what type of transplant wo…

This study tested a document called Voicing My CHOiCES, designed to help young adults (ages 18-39) with serious illnesses like cancer or HIV discuss their care preferences. Participants filled out questionnaires about anxiety, social support, and communication, then reviewed the …

This study screened up to 1,000 people with severe allergic conditions—like anaphylaxis, eczema, and asthma—along with their relatives to find genetic causes. Researchers collected blood samples and medical history to link specific gene mutations to these diseases. No treatment w…

This completed study looked at people with genetic conditions that affect how the lungs clear mucus, such as cystic fibrosis and primary ciliary dyskinesia. Researchers examined 87 participants, including healthy volunteers, to understand why these patients get repeated lung infe…

This completed study looked at inherited disorders common in Amish and Mennonite populations. Researchers collected medical histories, blood or cheek swab samples from 157 participants to find the genes behind these conditions. They also built a computer database of family trees …

This study looked at how people with autoimmune diseases like multiple sclerosis or blistering skin conditions respond to COVID-19 vaccines while on B-cell depleting therapies. Researchers measured antibody levels and T-cell activity over time to understand vaccine effectiveness …

This small pilot study looked at whether clopidogrel, a drug that stops blood clots, could lower a substance called sCD40L in people with lupus. Lupus is an autoimmune disease where the body attacks itself. The study involved 18 adults with lupus and measured sCD40L levels in the…

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 at whether ultrasound and stiffness measurements of the liver and spleen can predict a serious condition called portal hypertension in people with common variable immunodeficiency (CVID). Researchers examined 250 CVID patients during routine visits, using non-in…

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 observational study compared blood samples from 24 people with antibody deficiency (CVID) and healthy volunteers. Researchers used advanced technology to measure how different immune cells respond to various triggers. The goal was to find patterns that could improve diagnosi…

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 looked at how common variable immunodeficiency (CVID) changes the bacteria and immune activity in the respiratory tract. Researchers collected samples from 75 people with and without CVID to analyze microbes and gene activity. The goal was to understand why lung proble…

This study investigates how obesity affects the way the body processes intravenous immune globulin (IVIG), a treatment for immune deficiencies. Researchers measured body composition and blood levels of IVIG in 40 obese and normal-weight patients to find the best dosing strategy. …

This study looked at whether running an ultratrail (a very long race) raises the risk of getting an infection afterward. Researchers followed 471 runners and their companions, asking about symptoms like fever, sore throat, and fatigue for three weeks after the race. The goal was …

This study looked at 27 adults with a severe form of primary immunodeficiency, which causes frequent infections, enlarged lymph nodes, and low white blood cells. Researchers analyzed their DNA to find known and new genetic mutations linked to the condition. The goal was to better…

This study looked at how well the Pfizer COVID-19 vaccine triggers an immune response in 196 adults with weakened immune systems (due to conditions like kidney transplant, cancer, or HIV) compared to healthy adults. Researchers measured antibody levels and their ability to neutra…

This completed study in France looked at how common bronchiectasis (permanent lung damage) is in 46 adults with primary humoral immunodeficiency, a condition that weakens the immune system. Participants had a chest CT scan and lung function tests to check for bronchiectasis. The …

This study looked at Netherton syndrome, a rare genetic skin condition, to better understand how it affects the body and immune system. Researchers studied 18 people with the disease, measuring immune markers in the blood and tracking skin changes. The goal was to find new target…

This completed registry study followed 80 children and young adults with severe immune cytopenias, including immune thrombocytopenia, autoimmune hemolytic anemia, and Evans syndrome. Researchers observed participants over up to 4 years to improve diagnosis and track the disease c…

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 collected blood samples from nearly 1,900 people in families where at least two members have a type of dysglobulinemia, including multiple myeloma, MGUS, or Waldenström's disease. Researchers will analyze the DNA to look for genetic variations that might increase the r…