Inborn error of immunity

This trial tests a one-time gene therapy for WHIM syndrome, a rare inherited immune disorder that causes severe infections. Doctors collect a person's own blood stem cells, use base editing to correct the faulty CXCR4 gene, and return the edited cells to the body. The goal is to …

This early-phase trial tests whether a bone marrow transplant from a partially matched relative can safely cure chronic granulomatous disease (CGD), a condition that causes severe infections and inflammation. Four people aged 4 to 65 with CGD and no perfect donor will receive che…

Chronic granulomatous disease (CGD) is a rare immune disorder that causes severe infections, and the only cure is a stem cell transplant. Transplants from unrelated donors can be risky, so researchers are testing whether adding the drug JSP191 before the transplant helps the dono…

This early-stage trial tests whether three experimental mRNA vaccines can safely teach the immune system to recognize and fight HIV. About 108 healthy, HIV-negative adults aged 18-55 will receive one of the vaccines. The main goal is to check for side effects and see if the vacci…

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 study tests a high-dose stem cell transplant for people with chronic granulomatous disease (CGD), a condition that weakens the immune system. Participants receive donor stem cells along with drugs to prevent rejection and graft-versus-host disease. The goal is to improve tra…

This early-stage trial tests an experimental drug called BI 3000202 in 16 adults with rare type 1 interferonopathies, such as Aicardi-Goutières syndrome. Participants take a low dose for 4 weeks, then a higher dose for 36 weeks. The main goal is to see if the drug is safe and how…

This study tests a new gene therapy for people with chronic granulomatous disease (CGD), a genetic disorder that weakens the immune system and makes them prone to serious infections. The treatment takes the patient's own blood stem cells, adds a missing gene in the lab, and puts …

This study tests a stem cell transplant to control peripheral T-cell lymphoma in people whose cancer has not responded to standard treatments. Participants receive a donor's stem cells after chemotherapy or antibody therapy to prepare their body. The goal is to see if this approa…

This study is for people with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), rare conditions that cause severe pain and skin reactions to sunlight. The purpose is to check the long-term safety of an oral medication called dersimelagon. About 301 participant…

This phase 3 trial tests crovalimab in 41 children with atypical hemolytic uremic syndrome (aHUS), a rare disease that causes blood clots and kidney damage. The drug is given first through a vein, then as a shot under the skin every four weeks. The goal is to see if it can stop d…

This study tests a gene therapy for people with X-linked chronic granulomatous disease (X-CGD), a genetic condition that weakens the immune system and leads to severe infections. Researchers take the patient's own stem cells, add a working copy of the faulty gene, and return the …

This early-phase trial tested whether combining two anti-cancer drugs, pomalidomide (taken as a pill) and liposomal doxorubicin (given through an IV), is safe and tolerable for people with advanced or hard-to-treat Kaposi sarcoma. The study enrolled 62 adults, including those wit…

This study looks at a rare disease called KSHV-associated multicentric Castleman's disease (MCD), caused by a virus. Researchers are testing several drug combinations, including chemotherapy and antivirals, to see if they can control the disease. The study also tracks how the dis…

This study tests whether a stem cell transplant from a matched sibling, unrelated donor, or half-matched parent can fix the immune system in people with DOCK8 deficiency, a genetic condition that causes severe infections and cancer. Participants aged 4 to 35 receive chemotherapy …

This study tests a one-time gene therapy called EN-374 for people with X-linked chronic granulomatous disease (X-CGD), a rare immune disorder that causes severe infections. The treatment uses a modified virus to deliver a working gene to blood stem cells, aiming to restore the ab…

This phase 2 study tests the drug sirolimus (rapamycin) in 7 people with idiopathic multicentric Castleman disease who have not improved with standard therapy. The goal is to see if sirolimus can improve symptoms like fatigue, fever, and night sweats, and shrink enlarged lymph no…

This phase 2 trial tests the drug venetoclax (a pill) in 110 people with relapsed or refractory chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL). The study includes two groups: those with a specific genetic change (17p deletion) and those who have failed oth…

This study tests whether a lower dose of the drug cyclophosphamide, given after a stem cell transplant from a partially matched donor, can reduce serious infections in the first 100 days while still preventing graft-versus-host disease (a common complication where donor cells att…

This phase II trial tests whether a new drug called Briquilimab can make stem cell transplants safer for people with GATA2 deficiency, a rare genetic condition that weakens the immune system and raises the risk of infections and blood cancers. The study involves 13 participants a…

This study tests a specific timing of chemotherapy drugs (busulfan and fludarabine) before a donor stem cell transplant, followed by cyclophosphamide after the transplant, to treat high-risk blood cancers like leukemia and lymphoma. The goal is to reduce the chance of the transpl…

This phase 3 trial is testing a new medicine called Newnorm, a concentrated antibody solution given as a shot under the skin, in 50 people with primary immunodeficiency (a condition where the immune system doesn't work properly). The goal is to see if Newnorm can prevent serious …

This study tests an experimental cell therapy called tabelecleucel in 190 people with diseases caused by the Epstein-Barr virus (EBV), including certain lymphomas and post-transplant complications. The treatment uses specially prepared immune cells to fight the virus. The main go…

This phase 2 study tests a drug called MAS825 in 17 people with rare genetic conditions that cause severe inflammation. The goal is to see if the drug can prevent disease flares better than a placebo. Participants will be monitored for safety and effectiveness over several period…

This study tests a new medicine called crovalimab for people with a rare disease called atypical hemolytic uremic syndrome (aHUS), which causes blood clots and kidney damage. The trial includes 83 adults and teens who receive the drug to see if it can control the disease and impr…

This study tests whether sap from the Pterocarpus indicus tree can help heal small skin ulcers (sores) in remote areas of Papua New Guinea. 222 people with sores smaller than a dime will get either the plant sap, Savlon antiseptic cream, or no treatment. Researchers will check he…

This study tests a new treatment for people with Hodgkin or non-Hodgkin lymphoma that has returned or not responded to standard therapy. The treatment involves taking a patient's own T cells (a type of immune cell), adding a gene that helps them recognize and attack lymphoma cell…

This study tests a new approach for people receiving a stem cell transplant from a partially matched family donor. The donor's immune cells (T cells) are modified in the lab to include a 'suicide gene' that can be activated by a drug if the cells attack the patient's body, causin…

This trial tests whether specially modified T cells from a partially matched donor can help patients recover their immune system faster after a stem cell transplant. The T cells are engineered with a 'suicide gene' that allows doctors to destroy them if they cause graft-versus-ho…

This phase 2 trial tests whether the supplement fisetin can improve lung disease in people with common variable immunodeficiency (CVID). Twenty participants will receive either fisetin or a placebo on four days over a month. The study measures changes in immune cells and lung fun…

This Phase 3 trial tests whether adding the targeted drug acalabrutinib to standard chemotherapy (R-CHOP) helps people with a specific, aggressive type of lymphoma (non-GCB DLBCL) live longer without their cancer getting worse. About 611 adults aged 18 to 75 who have not been tre…

This study tests a donor stem cell transplant for people with severe immune system problems, like SCID and Wiskott-Aldrich syndrome. The goal is to help the body make healthy blood cells and fight infections. Participants receive donated stem cells to rebuild their immune system.…

This study tests a drug called leniolisib in children aged 1 to 6 years who have a rare genetic immune disorder called APDS. The drug aims to control the overactive immune system and reduce swollen lymph nodes. Researchers will monitor safety and how well the drug works over time…

This early-phase trial tests a new type of immunotherapy for people with Hodgkin lymphoma or cutaneous T-cell lymphoma that has returned or not responded to standard treatments. The therapy uses the patient's own T cells, which are genetically modified to recognize and attack can…

This study tests a daily oral drug called nemtabrutinib (ARQ 531) in 190 people with blood cancers like lymphoma or leukemia that have come back or not responded to prior treatment. The goal is to find a safe dose and see if the drug can shrink tumors. It is an early-phase trial,…

This early-phase trial tests a new treatment for people with Hodgkin or non-Hodgkin lymphoma who have had a stem cell transplant. The treatment uses the patient's own T cells, which are modified in a lab to recognize and attack cancer cells that carry a protein called CD30. The m…

This study tests a medicine called Kedrion IVIG 10% in 30 children with primary immunodeficiency, a condition where the immune system doesn't work properly. The treatment is made from donated antibodies and is given through a vein to help prevent serious bacterial infections. Res…

This study follows about 50 people with a rare immune disorder called ADA-SCID who have received a gene therapy treatment called Strimvelis. The goal is to track their health for many years to see if the treatment remains safe and effective. Researchers will monitor for side effe…

This study looks at whether giving Cutaquig® (a medicine that helps fight infections) by a faster manual push method is safe and easy for adults with primary or secondary immunodeficiency. About 36 participants will use the rapid push method at home. The goal is to see if this ap…

This study tests a program called Khanya, where trained peers (people with lived substance use experience) help HIV patients stick to their medication and reduce drug or alcohol use. The program is offered in steps: a basic version first, then a more intensive one if needed. Rese…

This study tests a drug called leniolisib in children aged 4 to 11 with APDS, a rare genetic condition that causes a faulty immune system. The goal is to see if the drug is safe and can control the disease by blocking an overactive immune signal. About 15 children will take the d…

This study tests the long-term safety of TAK-881, a subcutaneous immunoglobulin treatment, in 53 adults and children with primary immunodeficiency diseases (PIDD) who completed a prior study. Participants receive regular infusions every 2-4 weeks and are monitored for side effect…

This phase II study tests a combination of two drugs, venetoclax and rituximab, in 25 people with chronic lymphocytic leukemia (CLL) that has relapsed or not responded to treatment. The goal is to see how well the combination works and how safe it is. Participants receive venetoc…

This early-stage trial tests a new gene therapy (PM359) for people with a rare immune disorder called chronic granulomatous disease (CGD). The treatment takes a patient's own blood stem cells, fixes a specific genetic error using a precise editing tool called prime editing, and r…

This study tests whether a stem cell transplant from a healthy donor can safely treat people with severe T-cell problems. Participants receive chemotherapy and antibody therapy before the transplant, followed by donor stem cells. The goal is to see if the new immune system can co…

This study tests a stem cell transplant using donors who are not a perfect match for patients with blood cancers like leukemia and lymphoma. Doctors give special drugs after the transplant to help prevent the donor cells from attacking the patient's body. The goal is to see if th…

This study tests an experimental drug called iopofosine I 131 in people with certain blood cancers (like Waldenstrom macroglobulinemia, multiple myeloma, and lymphomas) that have come back or not responded to standard treatments. The drug delivers radiation directly to cancer cel…

This study tests a lotion called QRX003 in 30 people with Netherton Syndrome, a rare genetic skin condition. The lotion contains a drug that blocks certain enzymes thought to cause skin problems. Researchers are checking if it reduces redness, scaling, and itching compared to a p…

This study tests a stem cell transplant using a milder chemotherapy-like regimen to treat children and young adults (up to age 28) with various immune system disorders. The goal is to help the donor stem cells settle in the body with fewer side effects. The study involves 20 part…

This study tests a drug called leniolisib in 12 people aged 12 to 75 with certain primary immunodeficiency disorders. The goal is to see if the drug is safe and can help control immune system problems. Participants will receive three different doses of the drug, and researchers w…

This study tests a new approach for people aged 5 to 45 with primary immune deficiencies and end-stage lung disease. Participants receive a double lung transplant followed by a stem cell transplant from the same donor. The goal is to see if this combined procedure is safe and can…

This Phase II trial tests a stem cell transplant from unrelated or partially matched family donors for children and young adults with severe immune deficiencies. The stem cells are specially processed to remove certain immune cells, aiming to reduce complications. The goal is to …

This study tests a gene therapy for infants with X-linked severe combined immunodeficiency (SCID-X1), a life-threatening condition where babies lack a working immune system. Researchers take the baby's own bone marrow stem cells, add a normal copy of the faulty gene using a lenti…

This study tests a stem cell transplant method that removes certain immune cells from the donor's blood to lower the chance of graft-versus-host disease (GvHD), a serious complication. It involves 3 patients with blood cancers or non-cancerous blood disorders who lack a perfectly…

This study tests whether giving HIV patients their own genetically modified stem cells is safe and feasible. The cells are changed to resist HIV, and patients receive a mild chemotherapy drug before infusion. The goal is to see if the modified cells can help control the virus, bu…

This trial aimed to test a gene therapy for X-linked chronic granulomatous disease, a condition where the immune system cannot fight certain infections. The treatment involved taking the patient's own stem cells, adding a working copy of the defective gene, and returning them to …

This trial is testing a new imaging tracer called FLT, which is used with a PET scan to measure how fast tumors are growing. The study includes people with various cancers or those awaiting a biopsy for a suspicious mass. The goal is to see if FLT PET imaging can help find and di…

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

This study tests a pill called deucrictibant for quickly treating swelling attacks in people with hereditary angioedema (HAE), including life-threatening throat swelling. About 150 adults who have had HAE attacks before will take the drug as needed and be monitored for safety and…

This long-term study looks at people and families with a higher chance of developing blood or lymph node cancers like leukemia or lymphoma. Researchers collect medical histories, genetic samples, and sometimes perform exams to find inherited genes or environmental triggers. The g…

This study collects small skin samples from people with primary immunodeficiency or immune regulation disorders, as well as from healthy volunteers. Researchers will use these cells to create cell lines for laboratory research. The goal is to better understand immune diseases and…

This study looks back at the medical records of 500 children and adults with cancer who received immunotherapy at the National Cancer Institute. The goal is to understand the side effects, like inflammation and immune reactions, that can happen with these treatments. By learning …

This study looks at why people with HIV and certain cancers caused by KSHV (Kaposi sarcoma herpesvirus) may lose bone density faster. Researchers will review past CT scans and health records from 40 adults treated at the NIH between 2005 and 2020. The goal is to find factors link…

This study is collecting blood, bone marrow, and tissue samples from 5,000 people with blood cancers like leukemia and lymphoma. Researchers will analyze the samples to find genetic abnormalities that cause cancer cells to grow. The goal is to understand why these cancers develop…

This study looks at the genetic makeup of rare blood diseases like Castleman disease and Langerhans cell histiocytosis. Researchers will analyze blood or tissue samples from 135 participants to find genetic changes that could be targeted by existing or experimental therapies. The…

This study observes 367 Chinese patients with atypical hemolytic uremic syndrome (aHUS), a rare condition that causes blood clots and kidney damage. Researchers will track how patients are treated in routine care and monitor their health for up to 12-24 months. The goal is to bet…

This study follows 21,000 adults newly diagnosed with non-Hodgkin lymphoma to learn which factors—like genetics, lifestyle, and treatment—affect survival and quality of life. Researchers will track health outcomes over time without providing a new treatment. The goal is to improv…

This study looks at skin and blood samples from 200 people with ichthyosis (a genetic condition causing dry, scaly skin) and healthy volunteers. Researchers want to find specific markers that could help them understand the disease better and develop new treatments. No treatment i…

This study aims to develop better lab tests to diagnose and monitor two rare kidney diseases: atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G). Researchers will analyze blood, cells, and kidney tissue from 180 patients and healthy volunteers to find markers t…

This study looks at how the complement system, a part of the immune system, may contribute to kidney damage in people with diabetes. Researchers will measure complement proteins in blood and urine from 90 participants to see if they are linked to kidney disease severity and blood…

This study was designed to test a holistic education program for stress management in people from colonized English-speaking countries. It aimed to help with conditions like stress, PTSD, anxiety, and fatigue using pastoral counseling and self-care activities. However, the study …

This study reviews medical records of 241 adults who developed a rare cancer called PTLD after an organ or stem cell transplant. Researchers aim to understand patient survival, disease features, and current treatments. No new treatments are tested; the goal is to gather informati…

This study looks at immune cells from people with autoimmune diseases (like lupus), people with infections, and healthy volunteers. Researchers want to understand how these cells differ and what makes them attack the body in autoimmune conditions. The study involves blood and bon…