Kostmann syndrome

This Phase 3 study tests whether the drug mavorixafor can reduce serious infections and increase neutrophil levels in people with chronic neutropenia—a condition where the body doesn't make enough infection-fighting white blood cells. About 176 participants will receive either ma…

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 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 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 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 study tests a software platform called Nest that helps young adults (ages 18-49) with inherited cancer risks manage their care. Participants will use the tool to track screening and share information with doctors and family. Researchers will compare users to non-users to see…

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 study is testing a blood test called GRAIL Galleri that looks for signs of many different cancers at once. It is being offered to 1000 people who have a high risk of cancer due to inherited genetic conditions. The goal is to see if the test can find cancers early, when they …

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 better understand and treat people with certain inherited metabolic or genetic disorders. Researchers will use standard medical tests like blood work and imaging to diagnose and care for participants, who may also join other related studies. The goal is to expa…

This study collects blood, urine, saliva, and tissue samples from nearly 6,000 people who have or may have cancer, including rare inherited forms. The samples are stored and used for research to understand the genetic and molecular basis of cancer. No new treatment is being teste…

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 collects extra blood, urine, and tumor samples from children and adults with certain cancers to build a large tissue repository. Researchers will analyze these samples to learn more about the genetic and molecular makeup of these tumors. The goal is to support future s…

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 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 discover new genes that may cause certain cancers to run in families. Researchers will collect blood samples and health information from 1,500 people in families where multiple members have had cancer, especially childhood cancers. The goal is to build a regist…

This study follows 56 young adults who have a genetic condition that raises their cancer risk. After they graduate from pediatric care at St. Jude, researchers track whether they find adult doctors and continue regular cancer screenings over 8 years. Participants fill out surveys…

This study tests whether web-based tools can help people with hereditary cancer syndromes share risk information with their relatives and encourage them to get genetic testing. Researchers will enroll 625 participants (patients and their relatives) and track how many use the tool…

This study collects blood, bone marrow, and other samples along with health information from up to 1,716 people with non-cancerous blood diseases and their family members. Researchers will analyze the participants' genes to find new genetic causes of these conditions and understa…

This study looks at genetic changes in families to figure out which ones truly increase cancer risk. Researchers will analyze DNA from 11,000 people, including those with certain gene variants and their relatives. The goal is to improve genetic counseling and help doctors decide …

This study is testing a new online platform called Nest for young adults aged 18-39 who have had genetic testing for cancer risk. The platform gives both patients and their doctors access to updated information about genetic findings. Researchers want to see if the tool is easy t…

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 from St. Jude Children's Research Hospital looks at how parents and children (ages 10-24) talk about the child's genetic risk for cancer. The goal is to understand what helps or hinders these conversations, so doctors can create better education programs. The study wil…

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 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 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 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 compares two methods of offering cancer genetic testing to patients in community health centers. One method lets primary care doctors order tests directly, while the other uses a specialist model with extra support. Researchers will track how many patients get tested a…

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 compares a self-guided online genetic testing program to standard in-person counseling for people at risk of hereditary cancer. About 1,000 adults who meet national guidelines for genetic testing will participate. The goal is to see if the online option works just as w…

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 a new way to help family members of cancer patients learn if they have inherited a higher risk for cancer. About 240 people with a known cancer gene change will be asked to share their test results with their close relatives, either on their own or with help f…

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 aims to discover new genes that increase the risk of developing cancer, especially in people with a strong family history or unusual cancer patterns. Researchers will analyze genetic data from 1,500 adults and children who have or may develop inherited cancer. The goal…

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 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 follows children under 21 who have a genetic condition that raises their risk of developing cancer, along with their relatives. Researchers will collect health information and samples over time to better understand how these cancers develop and how to catch them early.…

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 compares two ways to provide pre-test genetic counseling to people at high risk for hereditary cancers: a chatbot (Genetic Information Assistant) versus a live telegenetics session with a genetic counselor. About 96 participants will be randomly assigned to one method,…

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 collects tissue samples, medical data, and family histories from over 1,100 people being screened for colorectal or endometrial cancer. Researchers hope to discover new genes and mechanisms that increase cancer risk, especially in hereditary cancer syndromes. The goal …