B cell deficiency

This study tests whether a stem cell transplant can cure people with serious immune system disorders. Participants, aged 4 to 69, receive healthy donor stem cells to rebuild their immune system. The goal is to see if the transplant can permanently fix the immune defect and elimin…

This early study tests baricitinib, a drug already approved for other immune conditions, in 20 people with Job syndrome who also have lupus-like disease or eczema. Participants take the pill daily for 6 months. The main goal is to see if it is safe and tolerable, while also check…

This early-phase study tests whether Mozobil, a drug already used to boost stem cells for transplants, can safely raise white blood cell counts in people with WHIMS. WHIMS is a rare genetic condition that traps infection-fighting cells in the bone marrow, leading to frequent infe…

This study tests a new type of stem cell transplant for children with primary immune deficiencies or inherited metabolic disorders. The transplant uses stem cells from a half-matched family donor, which are specially processed to remove certain immune cells. The goal is to see if…

This study tests whether a stem cell transplant from a healthy donor can help people with severe primary immunodeficiencies. Participants aged 4 to 75 receive chemotherapy before the transplant to prepare their body. The goal is to see if the procedure is safe and can improve imm…

This early-stage trial tests a new drug called BCX17725 in healthy volunteers and people with Netherton syndrome, a rare genetic skin condition. The study aims to check safety, how the drug moves through the body, and whether it can reduce skin redness and scaling. About 78 parti…

This study tests a bone marrow transplant from a family donor for children under 21 with severe non-cancer blood disorders like sickle cell disease, bone marrow failure, or immune problems. The goal is to see if the transplant can replace the diseased cells with healthy donor cel…

This study tests a stem cell transplant for people with common variable immunodeficiency (CVID) and other immune disorders. The goal is to replace the faulty immune system with a healthy donor's stem cells. Participants are aged 5 to 40 and will receive a reduced-intensity transp…

This study looks at whether a simple breathing test (spirometry) can help doctors decide the right dose of immunoglobulin therapy for people with common variable immune deficiency (CVID). Researchers will enroll 22 adults with CVID who already take a stable dose of Hizentra. Half…

This study tests whether testicular tissue frozen before puberty can be transplanted back into adult men to restore sperm production. Five men who had fertility-threatening treatments as children will receive their own preserved tissue. The goal is to see if sperm can be found in…

This study tests a lotion called QRX003 in people with Netherton Syndrome, a rare genetic skin condition. About 16 participants aged 4 and older will apply the lotion twice daily for 12 weeks. Researchers will check if it improves skin appearance and reduces itching.

This study is checking whether unlicensed cord blood units are safe to use for stem cell transplants in children and adults with blood disorders. Researchers will closely watch for any infusion-related problems. The goal is to see if these units can be a safe option for patients …

This study tests whether a medicine called XEMBIFY, given every two weeks alongside standard care, can reduce serious bacterial infections in adults with certain blood cancers (chronic lymphocytic leukemia, multiple myeloma, or non-Hodgkin lymphoma) who also have low antibody lev…

This study tests a one-time gene therapy for a single person with X-linked Hyper-IgM syndrome, a rare immune disorder caused by a faulty CD40L gene. The participant's own stem cells and T cells are collected, edited in a lab to fix the gene mutation, and then infused back after c…

This study tests whether the drug lusutrombopag can help restore platelet levels faster in patients who have had a stem cell transplant for blood disorders. About 45 adults will receive the drug after transplant, and doctors will check platelet counts at 21 days. The goal is to i…

This phase 2 trial tests a combination of three chemotherapy drugs (treosulfan, fludarabine, thiotepa) plus an immune-suppressing antibody before a donor stem cell transplant in up to 40 people under 50 with non-cancerous blood disorders. The goal is to see if this milder conditi…

This study tests whether IgPro20 (HIZENTRA), a concentrated antibody solution given under the skin, can prevent infections in people with multiple myeloma who have low antibody levels due to bispecific antibody therapy. About 100 participants will either receive IgPro20 plus stan…

This study looks at whether giving a longer course (10 days instead of 5) or adding another antiviral (remdesivir) to the standard Paxlovid treatment helps immunocompromised people clear COVID-19 faster. About 256 adults with mild or no symptoms will be randomly assigned to diffe…

This study is testing the long-term safety of a drug called leniolisib in people with primary immunodeficiency disorders linked to PI3K signaling. Participants are 12 people who already took leniolisib in a previous study and may benefit from continuing it. The goal is to see if …

This early-stage trial tests a cream called ATR12-351 for Netherton syndrome, a rare genetic skin condition. The cream contains live bacteria that produce a protein missing in people with the disease. Twelve adults will apply the cream to one side of their body and a placebo to t…

This phase III trial tests V-IMMUNE, an intravenous immunoglobulin (IVIG) product, in about 50 people with primary immunodeficiency (PID). Participants, aged 2 and older, will switch from their current IVIG to V-IMMUNE every three weeks for a year. The study aims to see if V-IMMU…

This study tests a new antibody replacement therapy (BP-SCIG 20%) given as a weekly injection under the skin. It aims to see if it is safe and effective at preventing serious infections in people with primary immunodeficiency, a condition where the immune system cannot produce en…

This study tracks 50 children and adults with non-malignant disorders like immune deficiencies and anemias who receive a stem cell transplant after a reduced-intensity chemotherapy regimen. The goal is to see if this approach improves survival and reduces severe graft-versus-host…

This study is for adults with blood disorders who are getting a stem cell transplant from a matched donor. Researchers want to see if giving a special potato starch along with a drug that lowers iron (deferasirox) can help prevent serious complications like graft-versus-host dise…

This program offers extra stem cells from a half-matched family donor to patients who are getting a cord blood transplant for serious blood cancers or immune disorders. The goal is to help the bone marrow recover more quickly while the cord blood cells take over permanently. It i…

This phase 2 trial tests whether abatacept (Orencia) can improve lung disease in people with common variable immunodeficiency (CVID). About 38 children and adults will receive either the drug or a placebo for 6 months. The main goal is to see if lung damage on CT scans shrinks by…

This study collects blood stem cells and immune cells from healthy volunteers and patients with primary immune deficiencies or blood disorders. The cells are used in the lab to develop new gene and cell therapies. Up to 850 adults aged 18-70 will participate. The goal is to advan…

This study aims to learn more about Hyper IgE syndrome, a rare immune disorder that causes skin and lung infections. Researchers will follow 600 patients and their relatives over time, examining their health and genetics. The goal is to better understand the disease and improve c…

This study is looking for the genes that cause certain immune system problems. Researchers want to understand why some people get sick and others don't, even in the same family. Up to 5,000 people with immune disorders and their relatives will give blood or cheek cell samples for…

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 follows 900 people with bronchiectasis—a condition where airways are damaged and prone to infection—to learn why they get sick repeatedly. Researchers will collect medical history, lung function tests, and blood, urine, and sputum samples from patients and their family…

This study aims to learn more about how diseases related to blood clots, the immune system, and blood vessels start and change over time. Researchers will enroll up to 1,000 people aged 5 and older, including those with these conditions, their healthy relatives, and healthy volun…

This study aims to find the genetic causes of inherited immune problems that affect white blood cells called lymphocytes. Researchers will review medical records and collect blood samples from up to 5,000 people with suspected immune disorders, as well as their relatives. The goa…

This study looks at the bacteria, fungi, and viruses living on the skin, in the gut, and in the mouth of people with Netherton syndrome, a rare condition that damages the skin barrier and often causes allergies. Researchers will compare these microbes to those of healthy voluntee…

This study looks at how genetic immune system problems might lead to gum disease and other mouth issues. Researchers will collect samples like saliva, plaque, and blood from 700 people, including those with immune defects, healthy adults with gum disease, and healthy adults witho…

This study collects blood, bone marrow, urine, and tissue samples from up to 6,000 people with solid tumors, blood cancers, or non-cancerous blood disorders, as well as from their healthy family members who are stem cell donors. The samples are stored and used in research to bett…

This study aims to understand why some people are more prone to fungal infections, especially from Candida yeast. Researchers will collect blood, saliva, urine, and tissue samples from people with immune disorders, their family members, and healthy volunteers. No treatment is giv…

This study collects blood stem cells from adults aged 18-40 with DOCK8 deficiency, LAD-1, or GATA2 deficiency. Participants receive daily injections of G-CSF for 5 days to move stem cells into the blood, then undergo a single leukapheresis procedure to collect them. The cells are…

This study aims to learn more about non-tuberculous mycobacterial (NTM) infections, which cause repeated lung and other organ infections. Researchers will study up to 1,000 participants to understand the genetics, symptoms, and best treatments for these infections. The study also…

This study aims to collect blood, saliva, and other samples from up to 3,000 people with primary immunodeficiency (PID) or their relatives. Researchers will analyze the samples to find genetic causes of PID. The goal is to better understand these inherited immune disorders, which…

This study looks at the tiny organisms living on our skin—like bacteria and fungi—and how they might differ in people with eczema (atopic dermatitis). Researchers will collect skin samples from healthy volunteers and patients aged 2 to 40 with moderate to severe eczema, as well a…

This study looks for better ways to detect lung inflammation and infections early in people who have received a stem cell transplant from a donor. About 40 participants aged 5 to 70 will get regular lung scans, breathing tests, blood draws, and a procedure where a tube collects f…

This study aims to find new genes that cause immune system problems by examining up to 500 people with immune disorders and their relatives. Participants provide blood, saliva, or tissue samples and may have medical tests, but no experimental treatments are given. The goal is to …

This study aims to learn more about primary immunodeficiency disorders (PIDs), which weaken the immune system and make people more prone to infections. Researchers will compare genetic and health data from people with PIDs, their healthy relatives, and healthy volunteers to find …

This study surveys 200 adult women with primary immune deficiency diseases about their use of intrauterine devices (IUDs), tampons, and menstrual cups. Researchers want to see if these products lead to infections like pelvic inflammatory disease or toxic shock syndrome. By collec…

This study tests a new communication tool called 'Let's Get REAL' that helps children and teens (ages 8-17) and their families talk together about stem cell transplant or cellular therapy decisions. The goal is to see if the tool is easy to use and helpful for families. About 60 …

This study is observing 400 people aged 12 and older who have noncirrhotic portal hypertension (NCPH) or are at risk for it. NCPH is a liver condition that increases blood pressure in the liver's blood vessels without causing cirrhosis, and often has no early symptoms. Researcher…

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 aims to find new genetic causes of primary immunodeficiency, a condition where the immune system doesn't work properly, leading to frequent or severe infections. Researchers will compare the genes of 500 people with suspected immunodeficiency, their relatives, and heal…

This study looks at how well vaccines against respiratory viruses (like flu or COVID-19) work in people with weakened immune systems, including those with blood cancers. Researchers will measure both antibody and T cell responses after vaccination. The goal is to understand why v…

This study looks at how the immune system of healthy adults in Cambodia reacts to viruses that can spread from animals to people. Researchers will collect blood samples from 400 people who have close contact with animals, such as those working in wet markets or living near bat ca…

This study aims to better understand primary immune deficiencies (PID), a group of diseases where the immune system doesn't work properly. Researchers will collect blood, stool, urine, and tissue samples from 300 people with PID and healthy volunteers to analyze immune responses.…

This study looks at whether low levels of immunoglobulin G (IgG), a type of antibody, are linked to fatigue in people with multiple sclerosis (MS). Researchers will compare fatigue scores and infection rates between MS patients with low IgG and those with normal IgG. The goal is …

This study is a large registry that collects health information from up to 200,000 people with blood disorders such as hemophilia, thrombosis, and sickle cell disease. Participants are seen at Hemophilia Treatment Centers across the U.S. The goal is to gather real-world data to h…

This study gathers basic health information from 2000 people receiving stem cell transplants for blood cancers or immune disorders. The goal is to track survival and complications to help doctors and researchers improve future treatments. Participants must be getting a standard t…

This study is testing a tool called B-COMPASS that uses a 22-question survey to predict whether people will follow their prescribed treatments. Researchers will enroll 3100 adults with cardiovascular, endocrine, immune, nerve, cancer, or rare diseases across Europe. The goal is t…

This study aims to find new biomarkers to better screen and monitor Activated PI3K Delta Syndrome (APDS), a rare immune disorder. Researchers will collect blood, urine, and stool samples from 14 APDS patients over two years to analyze changes in immune cells and other markers. Th…

This study looks at how gut bacteria and the immune system interact in children and adults receiving stem cell transplants or CAR-T therapy. Researchers will collect stool and blood samples over time to find patterns linked to complications like infections or graft-versus-host di…

This study looks back at medical records of about 100 people in Japan with primary immunodeficiency who received Cuvitru. The goal is to track serious side effects like allergic reactions, blood clots, and meningitis. No new treatment is given—researchers are simply analyzing exi…

This study is creating a large registry of 800 people receiving biologic medications for immune conditions like autoimmune diseases and primary immune deficiencies. Researchers will collect blood samples and health data to better understand how these treatments work and who respo…

This study aims to find the genetic causes behind certain allergic and immune system disorders. Researchers will collect blood, saliva, and tissue samples from up to 10,000 people of all ages, along with some family members. No treatments are given; the goal is simply to learn mo…

This study follows 102 women who had fertility preservation before cancer treatment to see what happens long-term. Researchers want to know if they get pregnant naturally, use stored eggs or tissue, or decide not to have children. The goal is to improve support and care for femal…

This study is collecting long-term safety and effectiveness data on treatments for various blood disorders, including hemophilia, sickle cell disease, and clotting disorders. It aims to enroll 3000 people of any age with these conditions. Researchers will monitor side effects, co…

This study looks at different forms of IgE (a protein involved in allergic reactions) in healthy volunteers and people with conditions like severe allergies, chronic hives, mastocytosis, and immune deficiencies. Researchers aim to understand how these IgE variations relate to hea…

This study is creating a collection of blood samples from 2,000 people with various blood disorders. The samples will be stored and used for future research approved by an ethics board. No treatments or drugs are being tested, and participants continue their normal care.

This study looks at how a person's body composition (fat and muscle) affects the way immunoglobulin G (IgG) moves through the body after being given through a vein or under the skin. Researchers will enroll 20 adults with a nerve condition called CIDP who already receive IgG ther…

This study looks at families who carry a change in the DDX41 gene, which may raise the risk of blood cancers like leukemia. Researchers will collect health questionnaires and saliva samples from up to 910 people to track who develops blood problems and when. The goal is to better…

This study looks at how JAK-inhibitor drugs affect the immune system and tests a gene therapy approach in cells from patients with primary immunodeficiency diseases. Researchers will collect blood samples from 20 adults to measure immune cell changes and gene editing efficiency. …

This study looks at 120 people with various immune deficiencies to see if a chronic gut virus infection is tied to liver or digestive problems. Researchers will collect blood, stool, urine, and biopsy samples to screen for enteric viruses. The goal is to identify which patients a…

This study looks at using a needle placed into the bone marrow (intraosseous infusion) to give fluids and medicines quickly to critically ill patients with blood diseases. Researchers will enroll 52 adults aged 18-65 to see how often the first attempt works and how safe it is. Th…

This study aims to understand why some people with alpha-1 antitrypsin deficiency (AATD) get more respiratory infections. Researchers will compare immune responses to a pneumonia vaccine (PCV20) in 30 adults who carry one abnormal copy of the SERPINA1 gene. Half have had frequent…

This study looks at how blood cells interact and what goes wrong in inherited bleeding disorders like Glanzmann thrombasthenia. Researchers will analyze blood samples from up to 60 healthy volunteers and patients to find genetic defects. The goal is to better understand these con…

This study is a registry that tracks patients with blood diseases who receive stem cell transplants at a hospital on the Qinghai-Tibet Plateau. Researchers will collect information on recovery, complications, and costs over time. The goal is to understand how high altitude affect…

This study looks at whether a quick ultrasound of the thigh muscle can detect muscle loss (sarcopenia) in people who have finished cancer treatment. Researchers will compare the ultrasound results with a standard whole-body scan (DEXA) in 55 adults aged 18-74 with certain cancers…

This study is collecting blood, urine, and stool samples from 500 children with autoimmune diseases and healthy controls. Researchers will analyze these samples to find molecular patterns that could help diagnose these conditions and guide treatment decisions. The goal is to crea…

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…